[
 {
  "gene": "AARS1",
  "hgnc_id": "HGNC:20",
  "clingen_disease_label": "Charcot-Marie-Tooth disease axonal type 2N",
  "mondo_id": "MONDO:0013212",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2024-03-14",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92de3832-c272-4993-8586-288c6331dec2-2024-03-14T160000.000Z",
  "type_named_in_label": "CMT2N",
  "curation_subtype_names": "CMT2N",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:613287",
  "clingen_excluded_omim": "OMIM:616339; OMIM:619661; OMIM:619691",
  "historical_subtype_names": "CMT2N",
  "subtype_mondo_ids": "MONDO:0013212",
  "omim_phenotype_ids": "OMIM:613287",
  "subtype_review_note": "non-neuropathy associations ignored: developmental and epileptic encephalopathy, 29; leukoencephalopathy, hereditary diffuse, with spheroids 2; trichothiodystrophy; trichothiodystrophy 8, nonphotosensitive...",
  "phenotype": "axonal",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/AARS/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/AARS1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "AARS1 is an established cause of a dominantly inherited axonal form of CMT (CMT2N); ClinGen rates the link as Definitive."
 },
 {
  "gene": "ARHGEF10",
  "hgnc_id": "HGNC:14103",
  "clingen_disease_label": "autosomal dominant slowed nerve conduction velocity",
  "mondo_id": "MONDO:0011998",
  "inheritance": "AD",
  "clingen_classification": "Limited",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b23121f9-57e1-48ac-a2bc-d5a293829530-2026-08-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:608236)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:608236",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "",
  "subtype_mondo_ids": "",
  "omim_phenotype_ids": "",
  "subtype_review_note": "no subtype name found in Mondo/Monarch (OLS Mondo search by gene symbol also checked) | unconverted neuropathy-related Mondo term: MONDO:0011998 \"autosomal dominant slowed nerve conduction velocity\"",
  "phenotype": "demyelinating",
  "genereviews": "",
  "panelapp": "Amber — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/ARHGEF10/; Amber — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/ARHGEF10/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "ARHGEF10 has been linked to dominantly inherited slowing of nerve conduction, but ClinGen rates the evidence only as Limited, so the link is uncertain."
 },
 {
  "gene": "ATL1",
  "hgnc_id": "HGNC:11231",
  "clingen_disease_label": "neuropathy, hereditary sensory, type 1D",
  "mondo_id": "MONDO:0013381",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2022-02-10",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c0282d1-5ab4-4a86-b1f6-165a3dbd515a-2022-02-10T020857.711Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HSN1D",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:182600)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:182600; OMIM:613708",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HSN1D",
  "subtype_mondo_ids": "MONDO:0013381",
  "omim_phenotype_ids": "OMIM:613708",
  "subtype_review_note": "dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: HSAN1 (MONDO:0018213) | non-neuropathy associations ignored: hereditary spastic paraplegia 3A",
  "phenotype": "sensory-predominant",
  "genereviews": "Spastic Paraplegia 3A: https://www.ncbi.nlm.nih.gov/books/NBK45978/; Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview: https://www.ncbi.nlm.nih.gov/books/NBK1509/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/ATL1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/ATL1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "ATL1 causes a dominantly inherited hereditary sensory neuropathy (HSN1D), and the same gene is also covered by GeneReviews for a form of hereditary spastic paraplegia (SPG3A); ClinGen rates the neuropathy link as Definitive."
 },
 {
  "gene": "ATL3",
  "hgnc_id": "HGNC:24526",
  "clingen_disease_label": "neuropathy, hereditary sensory, type 1F",
  "mondo_id": "MONDO:0014286",
  "inheritance": "AD",
  "clingen_classification": "Moderate",
  "classification_date": "2026-07-29",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_132d0be7-2003-43ed-a934-1cf60cf45773-2026-07-29T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HSN1F",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:615632",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HSN1F",
  "subtype_mondo_ids": "MONDO:0014286",
  "omim_phenotype_ids": "OMIM:615632",
  "subtype_review_note": "dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: HSAN1 (MONDO:0018213)",
  "phenotype": "sensory-predominant",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/ATL3/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/ATL3/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "ATL3 causes a dominantly inherited hereditary sensory neuropathy (HSN1F); ClinGen rates the evidence as Moderate."
 },
 {
  "gene": "ATP1A1",
  "hgnc_id": "HGNC:799",
  "clingen_disease_label": "Charcot-Marie-tooth disease, axonal, type 2DD",
  "mondo_id": "MONDO:0054833",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2026-07-29",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65182954-6603-4880-85fa-352700bd784b-2026-07-29T160000.000Z",
  "type_named_in_label": "CMT2DD",
  "curation_subtype_names": "CMT2DD",
  "curation_names_basis": "ClinGen disease term",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2DD",
  "subtype_mondo_ids": "MONDO:0054833",
  "omim_phenotype_ids": "OMIM:618036",
  "subtype_review_note": "non-neuropathy associations ignored: hypomagnesemia, seizures, and intellectual disability 2",
  "phenotype": "axonal",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/ATP1A1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/ATP1A1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "ATP1A1 is an established cause of a dominantly inherited axonal form of CMT (CMT2DD); ClinGen rates the link as Definitive."
 },
 {
  "gene": "ATP7A",
  "hgnc_id": "HGNC:869",
  "clingen_disease_label": "X-linked distal spinal muscular atrophy type 3",
  "mondo_id": "MONDO:0010338",
  "inheritance": "XL",
  "clingen_classification": "Moderate",
  "classification_date": "2026-07-29",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec7c42f3-3cad-4020-aa75-cf103c5381ba-2026-07-29T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "X-linked dHMN3",
  "curation_names_basis": "ClinGen disease term",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "X-linked dHMN3",
  "subtype_mondo_ids": "MONDO:0010338",
  "omim_phenotype_ids": "OMIM:300489",
  "subtype_review_note": "MONDO:0010338 \"X-linked distal spinal muscular atrophy type 3\" is not a subtype-pattern name; short form(s) taken from Mondo exact synonyms: X-linked dHMN3 | non-neuropathy associations ignored: Hirschsprung disease; Menkes disease; occipital horn syndrome",
  "phenotype": "axonal; motor-predominant",
  "genereviews": "ATP7A-Related Copper Transport Disorders: https://www.ncbi.nlm.nih.gov/books/NBK1413/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/ATP7A/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/ATP7A/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "ATP7A, which GeneReviews covers for copper-transport disorders, can also cause an X-linked distal motor neuropathy; ClinGen rates that link as Moderate."
 },
 {
  "gene": "BSCL2",
  "hgnc_id": "HGNC:15832",
  "clingen_disease_label": "distal hereditary motor neuropathy",
  "mondo_id": "MONDO:0018894",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2022-09-23",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02472719-c26d-40ff-8ad4-897ef7a6800a-2022-09-23T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "dHMN5C",
  "curation_names_basis": "gene-wide: this curation lists no MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "dHMN5C",
  "subtype_mondo_ids": "MONDO:0030860",
  "omim_phenotype_ids": "OMIM:619112",
  "subtype_review_note": "dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: dHMN5 (MONDO:0100350) | non-neuropathy associations ignored: congenital generalized lipodystrophy type 2; hereditary spastic paraplegia 17; severe neurodegenerative syndrome with lipodystrophy",
  "phenotype": "axonal; motor-predominant",
  "genereviews": "BSCL2-Related Neurologic Disorders / Seipinopathy: https://www.ncbi.nlm.nih.gov/books/NBK1307/; Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview: https://www.ncbi.nlm.nih.gov/books/NBK1509/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/BSCL2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/BSCL2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "BSCL2 causes a dominantly inherited, mainly motor neuropathy that tends to affect the lower legs and can come with leg spasticity; ClinGen rates the link as Definitive."
 },
 {
  "gene": "CADM3",
  "hgnc_id": "HGNC:17601",
  "clingen_disease_label": "Charcot-Marie-Tooth disease, axonal, type 2FF",
  "mondo_id": "MONDO:0030433",
  "inheritance": "AD",
  "clingen_classification": "Moderate",
  "classification_date": "2026-03-31",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bbe432b5-d085-4f99-91f9-a92f250dbf1b-2026-03-31T160000.000Z",
  "type_named_in_label": "CMT2FF",
  "curation_subtype_names": "CMT2FF",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:619519",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2FF",
  "subtype_mondo_ids": "MONDO:0030433",
  "omim_phenotype_ids": "OMIM:619519",
  "subtype_review_note": "",
  "phenotype": "axonal",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/CADM3/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/CADM3/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "CADM3 causes a dominantly inherited axonal form of CMT (CMT2FF) that can involve the forearms and hands as well as the legs; ClinGen rates the evidence as Moderate."
 },
 {
  "gene": "COQ7",
  "hgnc_id": "HGNC:2244",
  "clingen_disease_label": "distal hereditary motor neuropathy",
  "mondo_id": "MONDO:0018894",
  "inheritance": "AR",
  "clingen_classification": "Strong",
  "classification_date": "2026-03-31",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef344e96-e52f-4c03-90bd-d78de5613ec7-2026-03-31T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HMNR9",
  "curation_names_basis": "gene-wide: this curation lists no MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HMNR9",
  "subtype_mondo_ids": "MONDO:0957874",
  "omim_phenotype_ids": "OMIM:620402",
  "subtype_review_note": "MONDO:0957874 \"neuronopathy, distal hereditary motor, autosomal recessive 9\" converted to OMIM-style symbol HMNR9; Mondo related synonyms: none | non-neuropathy associations ignored: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome; primary coenzyme Q10 deficiency 8",
  "phenotype": "motor-predominant",
  "genereviews": "[overview only] Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview: https://www.ncbi.nlm.nih.gov/books/NBK320989/; Primary Coenzyme Q10 Deficiency Overview: https://www.ncbi.nlm.nih.gov/books/NBK410087/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/COQ7/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/COQ7/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "COQ7, a gene also covered in GeneReviews' overview of primary coenzyme Q10 deficiency, is linked to a recessive distal motor neuropathy; ClinGen rates the evidence as Strong."
 },
 {
  "gene": "DNAJB2",
  "hgnc_id": "HGNC:5228",
  "clingen_disease_label": "neuronopathy, distal hereditary motor, autosomal recessive 5",
  "mondo_id": "MONDO:0013947",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d726e4f-6edb-4d04-b2ae-2cd05ecdd8db-2026-08-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HMNR5; dSMA5",
  "curation_names_basis": "ClinGen disease term",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HMNR5; dSMA5",
  "subtype_mondo_ids": "MONDO:0013947",
  "omim_phenotype_ids": "OMIM:614881",
  "subtype_review_note": "MONDO:0013947 \"neuronopathy, distal hereditary motor, autosomal recessive 5\" converted to OMIM-style symbol HMNR5; Mondo related synonyms: none",
  "phenotype": "axonal; motor-predominant",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/DNAJB2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/DNAJB2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "DNAJB2 causes a recessive neuropathy that mainly affects the motor nerves (a distal hereditary motor neuropathy); ClinGen rates the link as Definitive."
 },
 {
  "gene": "DNM2",
  "hgnc_id": "HGNC:2974",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2020-10-27",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7bc54e5d-eed5-4d40-9e0d-143bfeb88cac-2020-10-27T131827.010Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMTDIB",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "CMT2M",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:606482; OMIM:606482",
  "clingen_excluded_omim": "OMIM:160150; OMIM:615368",
  "historical_subtype_names": "CMTDIB; CMT2M",
  "subtype_mondo_ids": "MONDO:0011674; MONDO:0016431",
  "omim_phenotype_ids": "OMIM:606482",
  "subtype_review_note": "CMT2M (MONDO:0016431) comes from a Monarch correlated (not causal) association only | non-neuropathy associations ignored: autosomal dominant centronuclear myopathy; centronuclear myopathy; fetal akinesia-cerebral and retinal hemorrhage syndrome",
  "phenotype": "intermediate",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/; Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview: https://www.ncbi.nlm.nih.gov/books/NBK1509/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/DNM2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/DNM2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "DNM2 causes a dominantly inherited intermediate form of CMT; ClinGen rates the link as Definitive."
 },
 {
  "gene": "DST",
  "hgnc_id": "HGNC:1090",
  "clingen_disease_label": "hereditary sensory and autonomic neuropathy type 6",
  "mondo_id": "MONDO:0013839",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2021-12-14",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d90c7de8-a72a-4c54-bab8-fe9d4aef0409-2021-12-14T170000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HSAN6",
  "curation_names_basis": "ClinGen disease term",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HSAN6",
  "subtype_mondo_ids": "MONDO:0013839",
  "omim_phenotype_ids": "OMIM:614653",
  "subtype_review_note": "non-neuropathy associations ignored: congenital myopathy 29 with contractures; epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency; lethal congenital contracture syndrome 12",
  "phenotype": "sensory-predominant",
  "genereviews": "Epidermolysis Bullosa Simplex: https://www.ncbi.nlm.nih.gov/books/NBK1369/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/DST/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/DST/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "DST causes a recessive hereditary sensory and autonomic neuropathy (HSAN6), which affects sensation and the nerves that run automatic body functions; ClinGen rates the link as Definitive."
 },
 {
  "gene": "DYNC1H1",
  "hgnc_id": "HGNC:2961",
  "clingen_disease_label": "distal hereditary motor neuropathy",
  "mondo_id": "MONDO:0018894",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1e12eb9-aea0-4597-8893-48df533f6ad9-2026-08-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT2O",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:158600)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:158600; OMIM:614228",
  "clingen_excluded_omim": "OMIM:614563; OMIM:614563",
  "historical_subtype_names": "CMT2O",
  "subtype_mondo_ids": "MONDO:0013644",
  "omim_phenotype_ids": "OMIM:614228",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0008026 \"autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures\" | non-neuropathy associations ignored: autosomal dominant non-syndromic intellectual disability; cortical dysplasia, complex, with other brain malformations 13",
  "phenotype": "axonal; motor-predominant",
  "genereviews": "DYNC1H1-Related Disorders: https://www.ncbi.nlm.nih.gov/books/NBK601997/; Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/DYNC1H1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/DYNC1H1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "DYNC1H1 causes a dominantly inherited, mostly motor axonal neuropathy that often starts in the legs, and some variants also affect brain development; ClinGen rates the link as Definitive."
 },
 {
  "gene": "EGR2",
  "hgnc_id": "HGNC:3239",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "SD",
  "clingen_classification": "Definitive",
  "classification_date": "2021-11-17",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6e83e27-0c9a-4475-92f5-745303931858-2021-11-17T033516.468Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT4E; CMT1D; CMT3; DSS",
  "curation_names_basis": "gene-wide: this curation lists no MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT4E; CMT1D; CMT3; DSS",
  "subtype_mondo_ids": "MONDO:0011527; MONDO:0011890; MONDO:0007790",
  "omim_phenotype_ids": "OMIM:605253; OMIM:607678; OMIM:145900",
  "subtype_review_note": "",
  "phenotype": "demyelinating",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/EGR2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/EGR2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "EGR2 causes demyelinating forms of CMT that can be inherited in a dominant or a recessive pattern; ClinGen rates the link as Definitive."
 },
 {
  "gene": "ELP1",
  "hgnc_id": "HGNC:5959",
  "clingen_disease_label": "Riley-Day syndrome",
  "mondo_id": "MONDO:0009131",
  "inheritance": "AR",
  "clingen_classification": "Moderate",
  "classification_date": "2025-05-29",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1fb7bfd2-ec58-4bb7-90ee-24ccf24fe942-2025-05-29T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HSAN3",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:223900",
  "clingen_excluded_omim": "OMIM:155255",
  "historical_subtype_names": "HSAN3",
  "subtype_mondo_ids": "MONDO:0009131",
  "omim_phenotype_ids": "OMIM:223900",
  "subtype_review_note": "MONDO:0009131 \"Riley-Day syndrome\" is not a subtype-pattern name; short form(s) taken from Mondo exact synonyms: HSAN3 | non-neuropathy associations ignored: medulloblastoma",
  "phenotype": "sensory-predominant",
  "genereviews": "Familial Dysautonomia: https://www.ncbi.nlm.nih.gov/books/NBK1180/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/ELP1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/ELP1/",
  "therapy_programs": "kinetin (familial dysautonomia), phase 1, completed: https://clinicaltrials.gov/study/NCT02274051; phosphatidylserine (familial dysautonomia), phase 2, completed: https://clinicaltrials.gov/study/NCT02276716; carbidopa for nausea (familial dysautonomia), phase 3, completed: https://clinicaltrials.gov/study/NCT01212484; carbidopa for blood-pressure variability (familial dysautonomia), phase 2, completed: https://clinicaltrials.gov/study/NCT02553265; bronchodilators (familial dysautonomia), phase 3, completed: https://clinicaltrials.gov/study/NCT01987219; dronabinol (familial dysautonomia), phase 2, withdrawn: https://clinicaltrials.gov/study/NCT02608931; sublingual dexmedetomidine for autonomic crises (familial dysautonomia), phase 2, active not recruiting: https://clinicaltrials.gov/study/NCT06128356; sublingual dexmedetomidine for autonomic crises (familial dysautonomia), phase 2, enrolling by invitation: https://clinicaltrials.gov/study/NCT06148311",
  "other_condition_trials": "",
  "plain_note": "ELP1 causes familial dysautonomia (also called Riley-Day syndrome or HSAN3), a recessive condition of the sensory and autonomic nerves; ClinGen rates the evidence as Moderate."
 },
 {
  "gene": "FBLN5",
  "hgnc_id": "HGNC:3602",
  "clingen_disease_label": "demyelinating hereditary motor and sensory neuropathy",
  "mondo_id": "MONDO:0018776",
  "inheritance": "AD",
  "clingen_classification": "Moderate",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a863341a-9dcf-4a4f-a82d-7edb5e63fe92-2026-08-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT1H",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:619764",
  "clingen_excluded_omim": "OMIM:219100; OMIM:608895; OMIM:608895; OMIM:614434",
  "historical_subtype_names": "CMT1H",
  "subtype_mondo_ids": "MONDO:0030689",
  "omim_phenotype_ids": "OMIM:619764",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0017237 \"hereditary sensorimotor neuropathy with hyperelastic skin\" | MONDO:0030689 \"Charcot-Marie-Tooth disease, demyelinating, IIA 1H\" is not a subtype-pattern name; short form(s) taken from Mondo exact synonyms: CMT1H | non-neuropathy associations ignored: autosomal dominant cutis laxa; autosomal recessive cutis laxa type 1; cutis laxa, autosomal dominant 2; cutis laxa, autosomal recessive, type 1A... | SPOT-CHECK (reviewer knowledge, not source): REVIEW: Mondo primary label \"IIA 1H\" looks malformed; CMT1H taken from its exact synonym.",
  "phenotype": "demyelinating",
  "genereviews": "FBLN5-Related Cutis Laxa: https://www.ncbi.nlm.nih.gov/books/NBK5201/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/FBLN5/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/FBLN5/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "FBLN5, which GeneReviews covers for a form of cutis laxa, has also been linked to a dominantly inherited demyelinating neuropathy; ClinGen rates that evidence as Moderate."
 },
 {
  "gene": "FBXO38",
  "hgnc_id": "HGNC:28844",
  "clingen_disease_label": "distal hereditary motor neuropathy",
  "mondo_id": "MONDO:0018894",
  "inheritance": "AD",
  "clingen_classification": "Moderate",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_350c1f45-5afd-4f36-8973-94acaf7bb961-2026-08-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "dHMN2D",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:615575",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "dHMN2D",
  "subtype_mondo_ids": "MONDO:0014259",
  "omim_phenotype_ids": "OMIM:615575",
  "subtype_review_note": "dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: dHMN2 (MONDO:0015352)",
  "phenotype": "motor-predominant",
  "genereviews": "",
  "panelapp": "Amber — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/FBXO38/; Amber — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/FBXO38/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "FBXO38 has been linked to a dominantly inherited distal motor neuropathy; ClinGen rates the evidence as Moderate."
 },
 {
  "gene": "FGD4",
  "hgnc_id": "HGNC:19125",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2020-04-14",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0aae8cd-9d57-4d8c-83ae-ed968cf186bc-2020-04-14T131822.010Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT4H",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:609311",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT4H",
  "subtype_mondo_ids": "MONDO:0012250",
  "omim_phenotype_ids": "OMIM:609311",
  "subtype_review_note": "",
  "phenotype": "demyelinating",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/FGD4/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/FGD4/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "FGD4 causes a recessive demyelinating form of CMT (CMT4H); ClinGen rates the link as Definitive."
 },
 {
  "gene": "FIG4",
  "hgnc_id": "HGNC:16873",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2025-01-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cbc44812-5fe4-4e11-ac89-58e4175d4463-2025-01-08T170000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT4J",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:216340)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:611228; OMIM:216340",
  "clingen_excluded_omim": "OMIM:612577; OMIM:612691",
  "historical_subtype_names": "CMT4J",
  "subtype_mondo_ids": "MONDO:0012640",
  "omim_phenotype_ids": "OMIM:611228",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0012945 \"amyotrophic lateral sclerosis type 11\" | unconverted neuropathy-related Mondo term: MONDO:0004976 \"amyotrophic lateral sclerosis\" | non-neuropathy associations ignored: Yunis-Varon syndrome; bilateral parasagittal parieto-occipital polymicrogyria",
  "phenotype": "demyelinating",
  "genereviews": "[overview only] Amyotrophic Lateral Sclerosis Overview: https://www.ncbi.nlm.nih.gov/books/NBK1450/; Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/FIG4/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/FIG4/",
  "therapy_programs": "ELP-02 intrathecal gene therapy (CMT4J), phase 1/2, recruiting: https://clinicaltrials.gov/study/NCT07447557",
  "other_condition_trials": "",
  "plain_note": "FIG4 causes a recessive demyelinating form of CMT (CMT4J); ClinGen rates the link as Definitive."
 },
 {
  "gene": "GAN",
  "hgnc_id": "HGNC:4137",
  "clingen_disease_label": "giant axonal neuropathy 1",
  "mondo_id": "MONDO:0009749",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2022-02-10",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9f65afa-5cb1-457e-abff-ab110145a32d-2022-02-10T021239.651Z",
  "type_named_in_label": "",
  "curation_subtype_names": "",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:256850)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:256850",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "",
  "subtype_mondo_ids": "",
  "omim_phenotype_ids": "",
  "subtype_review_note": "no subtype name found in Mondo/Monarch (OLS Mondo search by gene symbol also checked) | unconverted neuropathy-related Mondo term: MONDO:0009749 \"giant axonal neuropathy 1\"",
  "phenotype": "axonal",
  "genereviews": "GAN-Related Neurodegeneration: https://www.ncbi.nlm.nih.gov/books/NBK1136/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/GAN/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/GAN/",
  "therapy_programs": "scAAV9/JeT-GAN intrathecal gene transfer, phase 1, completed: https://clinicaltrials.gov/study/NCT02362438; scAAV9/JeT-GAN into the vagus nerve, phase 1, recruiting: https://clinicaltrials.gov/study/NCT07543991",
  "other_condition_trials": "",
  "plain_note": "GAN causes giant axonal neuropathy, a recessive condition that begins with a motor and sensory neuropathy early in childhood and in its classic form later involves the brain; ClinGen rates the link as Definitive."
 },
 {
  "gene": "GARS1",
  "hgnc_id": "HGNC:4162",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 2D",
  "mondo_id": "MONDO:0011091",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2023-01-10",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_168242d1-ef2e-486a-a45a-ed96187bd4d2-2023-01-10T170000.000Z",
  "type_named_in_label": "CMT2D",
  "curation_subtype_names": "CMT2D; dHMN5A",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:619042)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:601472; OMIM:619042; OMIM:600794",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2D; dHMN5A",
  "subtype_mondo_ids": "MONDO:0011091; MONDO:0015353",
  "omim_phenotype_ids": "OMIM:601472; OMIM:600794",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0033621 \"spinal muscular atrophy, infantile, James type\" | dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: dHMN5 (MONDO:0100350)",
  "phenotype": "axonal; motor-predominant",
  "genereviews": "GARS-Associated Axonal Neuropathy: https://www.ncbi.nlm.nih.gov/books/NBK1242/; Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/GARS/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/GARS1/",
  "therapy_programs": "nL-GARS1-001 personalized antisense oligonucleotide, single participant (CMT2D), phase 1/2, enrolling by invitation: https://clinicaltrials.gov/study/NCT07226297",
  "other_condition_trials": "",
  "plain_note": "GARS1 causes a dominantly inherited axonal neuropathy that often starts in the hands and can be mainly motor; ClinGen rates the link as Definitive."
 },
 {
  "gene": "GDAP1",
  "hgnc_id": "HGNC:15968",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "SD",
  "clingen_classification": "Definitive",
  "classification_date": "2020-07-28",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6d93637-02f5-4f5d-b7a9-17356f084149-2020-07-28T144211.873Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT2K; CMTRIA; CMT4A",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:607706)",
  "other_gene_names": "",
  "unverified_names": "CMT2H",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:607831; OMIM:607706; OMIM:608340; OMIM:214400",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2K; CMTRIA; CMT4A; CMT2H",
  "subtype_mondo_ids": "MONDO:0011916; MONDO:0012014; MONDO:0008961; MONDO:0020558; MONDO:0011901",
  "omim_phenotype_ids": "OMIM:607831; OMIM:608340; OMIM:214400; OMIM:607731",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0011898 \"Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive\" | CMT2K (MONDO:0020558) comes from a Monarch correlated (not causal) association only | CMT2H (MONDO:0011901) comes from a Monarch correlated (not causal) association only | SPOT-CHECK (reviewer knowledge, not source): consistent with expected CMT4A, CMT2K, CMTRIA, CMT2H.",
  "phenotype": "axonal; demyelinating; intermediate",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/GDAP1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/GDAP1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "GDAP1 can cause axonal, demyelinating or intermediate CMT, in dominant and recessive forms; ClinGen rates the link as Definitive."
 },
 {
  "gene": "GJB1",
  "hgnc_id": "HGNC:4283",
  "clingen_disease_label": "Charcot-Marie-Tooth disease X-linked dominant 1",
  "mondo_id": "MONDO:0010549",
  "inheritance": "XL",
  "clingen_classification": "Definitive",
  "classification_date": "2020-01-14",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcacd858-2376-4cc0-983a-156145e36595-2020-01-14T170000.000Z",
  "type_named_in_label": "CMTX1",
  "curation_subtype_names": "CMTX1",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:302800",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMTX1",
  "subtype_mondo_ids": "MONDO:0010549",
  "omim_phenotype_ids": "OMIM:302800; OMIM:302900",
  "subtype_review_note": "non-neuropathy associations ignored: X-linked progressive cerebellar ataxia | SPOT-CHECK (reviewer knowledge, not source): consistent with expected CMTX1.",
  "phenotype": "intermediate",
  "genereviews": "GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes: https://www.ncbi.nlm.nih.gov/books/NBK1374/; Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/GJB1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/GJB1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "GJB1 causes the X-linked form CMTX1, in which women can be as severely affected as men and nerve conduction is often in the intermediate range; ClinGen rates the link as Definitive."
 },
 {
  "gene": "GNB4",
  "hgnc_id": "HGNC:20731",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AD",
  "clingen_classification": "Moderate",
  "classification_date": "2026-07-29",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8cecdd7-06d8-4697-8cd9-32900c366371-2026-07-29T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMTDIF",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:615185",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMTDIF",
  "subtype_mondo_ids": "MONDO:0014074",
  "omim_phenotype_ids": "OMIM:615185",
  "subtype_review_note": "",
  "phenotype": "intermediate",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/GNB4/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/GNB4/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "GNB4 causes a dominantly inherited intermediate form of CMT; ClinGen rates the evidence as Moderate."
 },
 {
  "gene": "HINT1",
  "hgnc_id": "HGNC:4912",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2021-03-22",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_170aae71-9b16-49b1-be29-44f98db2f72e-2021-03-22T201109.360Z",
  "type_named_in_label": "",
  "curation_subtype_names": "ARCMT2-NM",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:137200",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "ARCMT2-NM",
  "subtype_mondo_ids": "MONDO:0007646",
  "omim_phenotype_ids": "OMIM:137200",
  "subtype_review_note": "MONDO:0007646 \"Gamstorp-Wohlfart syndrome\" is not a subtype-pattern name; short form(s) taken from Mondo exact synonyms: ARCMT2-NM | SPOT-CHECK (reviewer knowledge, not source): REVIEW: ARCMT2-NM is an exact synonym of Gamstorp-Wohlfart syndrome (OMIM symbol NMAN, neuromyotonia and axonal neuropathy); not a conventional numbered CMT subtype.",
  "phenotype": "axonal",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/HINT1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/HINT1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "HINT1 causes a recessive axonal neuropathy that can be accompanied by neuromyotonia; ClinGen rates the link as Definitive."
 },
 {
  "gene": "HSPB1",
  "hgnc_id": "HGNC:5246",
  "clingen_disease_label": "Charcot-Marie-Tooth disease axonal type 2F",
  "mondo_id": "MONDO:0011687",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2022-08-03",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bec365e-7832-41f1-89cc-48b8ab570c76-2022-08-03T160000.000Z",
  "type_named_in_label": "CMT2F",
  "curation_subtype_names": "CMT2F",
  "curation_names_basis": "ClinGen disease term",
  "other_gene_names": "dHMN2B",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2F; dHMN2B",
  "subtype_mondo_ids": "MONDO:0011687; MONDO:0012080",
  "omim_phenotype_ids": "OMIM:606595; OMIM:608634",
  "subtype_review_note": "dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: dHMN2 (MONDO:0015352) | SPOT-CHECK (reviewer knowledge, not source): consistent with expected CMT2F, dHMN2B.",
  "phenotype": "axonal; motor-predominant",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/HSPB1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/HSPB1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "HSPB1 causes a dominantly inherited axonal neuropathy that may be classed as CMT2F or as a distal motor neuropathy; ClinGen rates the link as Definitive."
 },
 {
  "gene": "HSPB8",
  "hgnc_id": "HGNC:30171",
  "clingen_disease_label": "neuronopathy, distal hereditary motor, autosomal dominant",
  "mondo_id": "MONDO:0015362",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2021-03-22",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_044a2465-8e0a-44ff-8d00-1ec3a76183c8-2021-03-22T201855.441Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT2L; dHMN2A",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:608673; OMIM:158590",
  "clingen_excluded_omim": "OMIM:621078",
  "historical_subtype_names": "CMT2L; dHMN2A",
  "subtype_mondo_ids": "MONDO:0012096; MONDO:0008025",
  "omim_phenotype_ids": "OMIM:608673; OMIM:158590",
  "subtype_review_note": "dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: dHMN2 (MONDO:0015352) | non-neuropathy associations ignored: myopathy, myofibrillar, 13, with rimmed vacuoles",
  "phenotype": "axonal; motor-predominant",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/HSPB8/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/HSPB8/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "HSPB8 causes a dominantly inherited axonal neuropathy, often of adult onset, that ClinGen curates as a distal motor neuropathy with Definitive evidence."
 },
 {
  "gene": "IGHMBP2",
  "hgnc_id": "HGNC:5542",
  "clingen_disease_label": "hereditary peripheral neuropathy",
  "mondo_id": "MONDO:0020127",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2023-09-06",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2717b35a-87a4-4f24-a762-53388db1bcb5-2023-09-06T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT2S; SMARD1; dHMN6; dSMA1",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:616155; OMIM:604320",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2S; SMARD1; dHMN6; dSMA1",
  "subtype_mondo_ids": "MONDO:0014511; MONDO:0011436",
  "omim_phenotype_ids": "OMIM:616155; OMIM:604320",
  "subtype_review_note": "MONDO:0011436 \"autosomal recessive distal spinal muscular atrophy 1\" is not a subtype-pattern name; short form(s) taken from Mondo exact synonyms: SMARD1, dHMN6, dSMA1",
  "phenotype": "axonal; motor-predominant",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/IGHMBP2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/IGHMBP2/",
  "therapy_programs": "AAV9-IGHMBP2 intrathecal gene therapy (SMARD1, CMT2S), phase 1/2, enrolling by invitation: https://clinicaltrials.gov/study/NCT05152823; VCA-894A antisense oligonucleotide, single participant (CMT2S), phase 1/2, active not recruiting: https://clinicaltrials.gov/study/NCT07223632",
  "other_condition_trials": "",
  "plain_note": "IGHMBP2 causes recessive conditions ranging from spinal muscular atrophy with respiratory distress (SMARD1) to an axonal CMT (CMT2S); ClinGen rates the link as Definitive."
 },
 {
  "gene": "INF2",
  "hgnc_id": "HGNC:23791",
  "clingen_disease_label": "Charcot-Marie-Tooth disease dominant intermediate E",
  "mondo_id": "MONDO:0013758",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2021-03-22",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5215f2cf-99c9-405a-b221-18f412abd1f0-2021-03-22T202012.410Z",
  "type_named_in_label": "CMTDIE",
  "curation_subtype_names": "CMTDIE",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:613237); names from the ClinGen disease term",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:613237",
  "clingen_excluded_omim": "OMIM:614455",
  "historical_subtype_names": "CMTDIE",
  "subtype_mondo_ids": "MONDO:0013758",
  "omim_phenotype_ids": "OMIM:614455",
  "subtype_review_note": "non-neuropathy associations ignored: familial idiopathic steroid-resistant nephrotic syndrome; focal segmental glomerulosclerosis 5",
  "phenotype": "intermediate",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/INF2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/INF2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "INF2 causes a dominantly inherited intermediate form of CMT that can come with a kidney disease (glomerulosclerosis); ClinGen rates the link as Definitive."
 },
 {
  "gene": "ITPR3",
  "hgnc_id": "HGNC:6182",
  "clingen_disease_label": "Charcot-Marie-Tooth disease, demyelinating, type 1J",
  "mondo_id": "MONDO:0859311",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2026-03-31",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52136e55-cdc4-4bc2-a265-cacda8b269f2-2026-03-31T160000.000Z",
  "type_named_in_label": "CMT1J",
  "curation_subtype_names": "CMT1J",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:620111",
  "clingen_excluded_omim": "OMIM:222100; OMIM:621254",
  "historical_subtype_names": "CMT1J",
  "subtype_mondo_ids": "MONDO:0859311",
  "omim_phenotype_ids": "OMIM:620111",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0979570 \"immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy\"",
  "phenotype": "demyelinating",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/ITPR3/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/ITPR3/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "ITPR3 causes a dominantly inherited demyelinating CMT (CMT1J) whose age of onset and severity vary widely; ClinGen rates the link as Definitive."
 },
 {
  "gene": "KIF1B",
  "hgnc_id": "HGNC:16636",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 2A1",
  "mondo_id": "MONDO:0007308",
  "inheritance": "AD",
  "clingen_classification": "Limited",
  "classification_date": "2026-06-12",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2026-06-12T160000.000Z",
  "type_named_in_label": "CMT2A1",
  "curation_subtype_names": "CMT2A1",
  "curation_names_basis": "ClinGen disease term",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2A1",
  "subtype_mondo_ids": "MONDO:0007308",
  "omim_phenotype_ids": "OMIM:118210",
  "subtype_review_note": "non-neuropathy associations ignored: hereditary pheochromocytoma-paraganglioma; neuroblastoma, susceptibility to, 1",
  "phenotype": "axonal",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Red — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/KIF1B/; Red — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/KIF1B/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "KIF1B has been proposed as a cause of a dominantly inherited axonal CMT (CMT2A1), but ClinGen rates the evidence only as Limited."
 },
 {
  "gene": "KIF5A",
  "hgnc_id": "HGNC:6323",
  "clingen_disease_label": "inherited neurodegenerative disorder",
  "mondo_id": "MONDO:0024237",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2023-07-12",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aad7dc3e-b664-4ffb-af0f-4eba346b43e7-2023-07-12T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:604187, OMIM:617921)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:604187; OMIM:617921",
  "clingen_excluded_omim": "OMIM:617235",
  "historical_subtype_names": "",
  "subtype_mondo_ids": "",
  "omim_phenotype_ids": "",
  "subtype_review_note": "no subtype name found in Mondo/Monarch (OLS Mondo search by gene symbol also checked) | unconverted neuropathy-related Mondo term: MONDO:0017940 \"autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation\" | unconverted neuropathy-related Mondo term: MONDO:0060670 \"amyotrophic lateral sclerosis, susceptibility to, 25\" | non-neuropathy associations ignored: hereditary spastic paraplegia 10; inherited neurodegenerative disorder; myoclonus, intractable, neonatal | SPOT-CHECK (reviewer knowledge, not source): Mondo term is CMT2 (unlettered) due to KIF5A, Orphanet-derived; no subtype letter exists in Mondo.",
  "phenotype": "axonal",
  "genereviews": "[overview only] Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview: https://www.ncbi.nlm.nih.gov/books/NBK1509/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/KIF5A/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/KIF5A/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "KIF5A, also covered by GeneReviews for hereditary spastic paraplegia, can cause a dominantly inherited axonal neuropathy with spasticity; ClinGen rates its link to inherited neurodegenerative disorder as Definitive."
 },
 {
  "gene": "LITAF",
  "hgnc_id": "HGNC:16841",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2026-07-29",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7106097-314c-487a-9770-b7dea3f25f37-2026-07-29T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT1C",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:601098",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT1C",
  "subtype_mondo_ids": "MONDO:0010995",
  "omim_phenotype_ids": "OMIM:601098",
  "subtype_review_note": "",
  "phenotype": "demyelinating",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/LITAF/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/LITAF/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "LITAF causes a dominantly inherited demyelinating form of CMT (CMT1C); ClinGen rates the link as Definitive."
 },
 {
  "gene": "LRSAM1",
  "hgnc_id": "HGNC:25135",
  "clingen_disease_label": "Charcot-Marie-Tooth disease axonal type 2P",
  "mondo_id": "MONDO:0013753",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2023-11-28",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82dac4c0-801f-4704-b59d-0a9441423d5a-2023-11-28T170000.000Z",
  "type_named_in_label": "CMT2P",
  "curation_subtype_names": "CMT2P",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:614436",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2P",
  "subtype_mondo_ids": "MONDO:0013753",
  "omim_phenotype_ids": "OMIM:608591; OMIM:614436",
  "subtype_review_note": "",
  "phenotype": "axonal",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/LRSAM1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/LRSAM1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "LRSAM1 causes an axonal form of CMT (CMT2P) in dominant and recessive forms; ClinGen rates the dominant link as Definitive."
 },
 {
  "gene": "MARS1",
  "hgnc_id": "HGNC:6898",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AD",
  "clingen_classification": "Limited",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f042c42-893b-4c98-a719-0f778a54be43-2026-08-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT2U",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:616280",
  "clingen_excluded_omim": "OMIM:615486; OMIM:619692; OMIM:620323",
  "historical_subtype_names": "CMT2U",
  "subtype_mondo_ids": "MONDO:0014566",
  "omim_phenotype_ids": "OMIM:616280",
  "subtype_review_note": "non-neuropathy associations ignored: autosomal recessive spastic paraplegia type 70; severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; trichothiodystrophy 9, nonphotosensitive",
  "phenotype": "axonal",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Red — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/MARS/; Red — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/MARS1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "MARS1 has been linked to a dominantly inherited axonal CMT (CMT2U), but ClinGen rates the evidence only as Limited."
 },
 {
  "gene": "MCM3AP",
  "hgnc_id": "HGNC:6946",
  "clingen_disease_label": "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development",
  "mondo_id": "MONDO:0029131",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2023-05-05",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_24bcbb92-9401-4659-beea-022646ee8930-2023-05-05T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:618124)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:618124",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "",
  "subtype_mondo_ids": "",
  "omim_phenotype_ids": "",
  "subtype_review_note": "no subtype name found in Mondo/Monarch (OLS Mondo search by gene symbol also checked) | unconverted neuropathy-related Mondo term: MONDO:0029131 \"peripheral neuropathy, autosomal recessive, with or without impaired intellectual development\"",
  "phenotype": "axonal; demyelinating",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/MCM3AP/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/MCM3AP/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "MCM3AP causes a recessive, often severe neuropathy beginning in childhood, with or without intellectual disability; ClinGen rates the link as Definitive."
 },
 {
  "gene": "MED25",
  "hgnc_id": "HGNC:28845",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 2B2",
  "mondo_id": "MONDO:0011570",
  "inheritance": "AR",
  "clingen_classification": "Disputed",
  "classification_date": "2021-03-22",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0e0d66f-c68d-4df3-bab2-71afc448e4b0-2021-03-22T201527.084Z",
  "type_named_in_label": "CMT2B2",
  "curation_subtype_names": "CMT2B2",
  "curation_names_basis": "ClinGen disease term",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2B2",
  "subtype_mondo_ids": "MONDO:0011570",
  "omim_phenotype_ids": "OMIM:605589",
  "subtype_review_note": "CMT2B2 (MONDO:0011570) comes only from the ClinGen-curated Mondo term in the input table; Monarch has no gene-disease association for it | non-neuropathy associations ignored: autosomal recessive non-syndromic intellectual disability; congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome",
  "phenotype": "axonal",
  "genereviews": "",
  "panelapp": "Red — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/MED25/; Red — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/MED25/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "MED25 was reported as a cause of a recessive axonal CMT (CMT2B2), but ClinGen classifies that claim as Disputed."
 },
 {
  "gene": "MFN2",
  "hgnc_id": "HGNC:16877",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 2A2",
  "mondo_id": "MONDO:0012231",
  "inheritance": "SD",
  "clingen_classification": "Definitive",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a04350b3-5fe9-438a-9e90-db0055ed15e7-2026-08-08T160000.000Z",
  "type_named_in_label": "CMT2A2",
  "curation_subtype_names": "CMT2A2; CMT2A2B",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "HMSN6A",
  "unverified_names": "CMT5",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:609260; OMIM:617087",
  "clingen_excluded_omim": "OMIM:151800; OMIM:601152",
  "historical_subtype_names": "CMT2A2; CMT2A2B; HMSN6A; CMT5",
  "subtype_mondo_ids": "MONDO:0012231; MONDO:0014906; MONDO:0011002; MONDO:0010877",
  "omim_phenotype_ids": "OMIM:609260; OMIM:617087; OMIM:601152; OMIM:600361",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0019549 \"severe early-onset axonal neuropathy due to MFN2 deficiency\" | dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: HMSN6 (MONDO:0019551) | CMT5 (MONDO:0010877) comes from a Monarch correlated (not causal) association only | non-neuropathy associations ignored: multiple symmetric lipomatosis | SPOT-CHECK (reviewer knowledge, not source): REVIEW: Mondo names OMIM:609260 \"type 2A2\" (converted CMT2A2); the AD form is conventionally written CMT2A2A alongside AR CMT2A2B. Not overridden.",
  "phenotype": "axonal",
  "genereviews": "MFN2 Hereditary Motor and Sensory Neuropathy: https://www.ncbi.nlm.nih.gov/books/NBK1511/; Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/; Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview: https://www.ncbi.nlm.nih.gov/books/NBK320989/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/MFN2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/MFN2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "MFN2 is one of the most commonly involved CMT genes; it causes an axonal neuropathy (CMT2A), usually dominantly inherited, that can also affect the optic nerve, and ClinGen rates the link as Definitive."
 },
 {
  "gene": "MME",
  "hgnc_id": "HGNC:7154",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 2T",
  "mondo_id": "MONDO:0044640",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d426d95-70b5-4537-809f-9f2520fc39e9-2026-08-08T160000.000Z",
  "type_named_in_label": "CMT2T",
  "curation_subtype_names": "CMT2T",
  "curation_names_basis": "ClinGen disease term",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2T",
  "subtype_mondo_ids": "MONDO:0044640",
  "omim_phenotype_ids": "OMIM:617017",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0044657 \"MME-related autosomal dominant Charcot Marie Tooth disease type 2\" | non-neuropathy associations ignored: congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization; spinocerebellar ataxia 43",
  "phenotype": "axonal",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/MME/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/MME/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "MME causes an axonal form of CMT (CMT2T) reported in recessive and dominant forms; ClinGen rates the recessive link as Definitive."
 },
 {
  "gene": "MORC2",
  "hgnc_id": "HGNC:23573",
  "clingen_disease_label": "Charcot-Marie-Tooth disease axonal type 2Z",
  "mondo_id": "MONDO:0014736",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2023-05-05",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3d5168d-b00c-475c-a696-d740675fbc84-2023-05-05T160000.000Z",
  "type_named_in_label": "CMT2Z",
  "curation_subtype_names": "CMT2Z",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:616688",
  "clingen_excluded_omim": "OMIM:619090",
  "historical_subtype_names": "CMT2Z",
  "subtype_mondo_ids": "MONDO:0014736",
  "omim_phenotype_ids": "OMIM:616688",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0030835 \"developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy\"",
  "phenotype": "axonal",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/MORC2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/MORC2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "MORC2 causes a dominantly inherited axonal form of CMT (CMT2Z); ClinGen rates the link as Definitive."
 },
 {
  "gene": "MPZ",
  "hgnc_id": "HGNC:7225",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2020-08-25",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_11f638d2-d8d2-4fe4-ab79-acff5cf32a18-2020-08-25T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT2J; CMT2I; Roussy-Levy syndrome; CMT3; DSS; CMTDID; CMT1B; CHN2",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:145900; OMIM:180800; OMIM:607791; OMIM:118200; OMIM:607677; OMIM:607736; OMIM:618184",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2J; CMT2I; Roussy-Levy syndrome; CMT3; DSS; CMTDID; CMT1B; CHN2",
  "subtype_mondo_ids": "MONDO:0011903; MONDO:0011889; MONDO:0008392; MONDO:0007790; MONDO:0011909; MONDO:0007307; MONDO:0020765",
  "omim_phenotype_ids": "OMIM:607736; OMIM:607677; OMIM:180800; OMIM:145900; OMIM:607791; OMIM:118200; OMIM:618184",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0007853 \"palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome\" | unconverted neuropathy-related Mondo term: MONDO:0017937 \"autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain\" | SPOT-CHECK (reviewer knowledge, not source): consistent with expected CMT1B, CMT2I, CMT2J, CMTDID, DSS, CHN.",
  "phenotype": "axonal; demyelinating; intermediate",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/MPZ/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/MPZ/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "MPZ is one of the most commonly involved CMT genes and can cause demyelinating, axonal or intermediate forms, all dominantly inherited; ClinGen rates the link as Definitive."
 },
 {
  "gene": "MTMR2",
  "hgnc_id": "HGNC:7450",
  "clingen_disease_label": "demyelinating hereditary motor and sensory neuropathy",
  "mondo_id": "MONDO:0018776",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2020-02-11",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44a837e2-ae06-4e4d-b7cf-ae2a3009b47d-2020-02-11T170000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT4B1",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:601382",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT4B1",
  "subtype_mondo_ids": "MONDO:0011066",
  "omim_phenotype_ids": "OMIM:601382",
  "subtype_review_note": "",
  "phenotype": "demyelinating",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/MTMR2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/MTMR2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "MTMR2 causes a recessive demyelinating form of CMT (CMT4B1) that can involve the vocal cords; ClinGen rates the link as Definitive."
 },
 {
  "gene": "NEFH",
  "hgnc_id": "HGNC:7737",
  "clingen_disease_label": "Charcot-Marie-Tooth disease axonal type 2CC",
  "mondo_id": "MONDO:0014836",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2020-10-05",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e1390ea-fd6c-4fa4-9b43-0eccff9e2829-2020-10-05T161645.817Z",
  "type_named_in_label": "CMT2CC",
  "curation_subtype_names": "CMT2CC",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:616924",
  "clingen_excluded_omim": "OMIM:105400; OMIM:105400",
  "historical_subtype_names": "CMT2CC",
  "subtype_mondo_ids": "MONDO:0014836",
  "omim_phenotype_ids": "OMIM:616924",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0004976 \"amyotrophic lateral sclerosis\" | unconverted neuropathy-related Mondo term: MONDO:0007103 \"amyotrophic lateral sclerosis type 1\"",
  "phenotype": "axonal",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/NEFH/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/NEFH/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "NEFH causes a dominantly inherited axonal form of CMT (CMT2CC); ClinGen rates the link as Definitive."
 },
 {
  "gene": "NEFL",
  "hgnc_id": "HGNC:7739",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2023-01-10",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ec533a-b1cb-4d1d-b12a-61ee6ac6ab07-2023-01-10T170000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT1F",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "CMT2E; CMTDIG",
  "unverified_names": "CMT2B5",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:607734",
  "clingen_excluded_omim": "OMIM:607684; OMIM:617882",
  "historical_subtype_names": "CMT1F; CMT2E; CMTDIG; CMT2B5",
  "subtype_mondo_ids": "MONDO:0011902; MONDO:0011894; MONDO:0036484; MONDO:0016454",
  "omim_phenotype_ids": "OMIM:607734; OMIM:607684; OMIM:617882",
  "subtype_review_note": "CMT2B5 (MONDO:0016454) comes from a Monarch correlated (not causal) association only | SPOT-CHECK (reviewer knowledge, not source): consistent with expected CMT1F, CMT2E, CMTDIG; CMT2B5 is an Orphanet-derived term (no OMIM xref).",
  "phenotype": "axonal; demyelinating",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/NEFL/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/NEFL/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "NEFL can cause axonal or demyelinating CMT in dominant and recessive forms; ClinGen rates both links as Definitive."
 },
 {
  "gene": "NEFL",
  "hgnc_id": "HGNC:7739",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 2",
  "mondo_id": "MONDO:0018993",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2023-01-10",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49d4cf82-b365-456e-9e35-2b28a66b71ec-2023-01-10T170000.000Z",
  "type_named_in_label": "CMT2",
  "curation_subtype_names": "CMT2E",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "CMT1F; CMTDIG",
  "unverified_names": "CMT2B5",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:607684",
  "clingen_excluded_omim": "OMIM:607734; OMIM:617882",
  "historical_subtype_names": "CMT1F; CMT2E; CMTDIG; CMT2B5",
  "subtype_mondo_ids": "MONDO:0011902; MONDO:0011894; MONDO:0036484; MONDO:0016454",
  "omim_phenotype_ids": "OMIM:607734; OMIM:607684; OMIM:617882",
  "subtype_review_note": "CMT2B5 (MONDO:0016454) comes from a Monarch correlated (not causal) association only | SPOT-CHECK (reviewer knowledge, not source): consistent with expected CMT1F, CMT2E, CMTDIG; CMT2B5 is an Orphanet-derived term (no OMIM xref).",
  "phenotype": "axonal; demyelinating",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/NEFL/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/NEFL/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "NEFL can cause axonal or demyelinating CMT in dominant and recessive forms; ClinGen rates both links as Definitive."
 },
 {
  "gene": "NGF",
  "hgnc_id": "HGNC:7808",
  "clingen_disease_label": "hereditary sensory and autonomic neuropathy",
  "mondo_id": "MONDO:0015364",
  "inheritance": "AR",
  "clingen_classification": "Strong",
  "classification_date": "2023-05-05",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0b3691d-a3d3-42f6-9703-18af08f40688-2023-05-05T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HSAN5",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:608654",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HSAN5",
  "subtype_mondo_ids": "MONDO:0012092",
  "omim_phenotype_ids": "OMIM:608654",
  "subtype_review_note": "",
  "phenotype": "sensory-predominant",
  "genereviews": "[overview only] Congenital Insensitivity to Pain Overview: https://www.ncbi.nlm.nih.gov/books/NBK481553/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/NGF/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/NGF/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "NGF causes a recessive hereditary sensory and autonomic neuropathy (HSAN5), which GeneReviews covers with congenital insensitivity to pain; ClinGen rates the evidence as Strong."
 },
 {
  "gene": "NTRK1",
  "hgnc_id": "HGNC:8031",
  "clingen_disease_label": "hereditary sensory and autonomic neuropathy type 4",
  "mondo_id": "MONDO:0009746",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2021-11-17",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e716345f-08da-4a06-b3e1-d07974a4305d-2021-11-17T030955.951Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HSAN4",
  "curation_names_basis": "ClinGen disease term",
  "other_gene_names": "",
  "unverified_names": "HSAN5",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HSAN4; HSAN5",
  "subtype_mondo_ids": "MONDO:0009746; MONDO:0012092",
  "omim_phenotype_ids": "OMIM:256800; OMIM:608654",
  "subtype_review_note": "HSAN5 (MONDO:0012092) comes from a Monarch correlated (not causal) association only | non-neuropathy associations ignored: differentiated thyroid carcinoma; familial medullary thyroid carcinoma",
  "phenotype": "sensory-predominant",
  "genereviews": "NTRK1 Congenital Insensitivity to Pain with Anhidrosis: https://www.ncbi.nlm.nih.gov/books/NBK1769/; Congenital Insensitivity to Pain Overview: https://www.ncbi.nlm.nih.gov/books/NBK481553/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/NTRK1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/NTRK1/",
  "therapy_programs": "droxidopa (congenital insensitivity to pain with anhidrosis, HSAN4), phase 2, withdrawn: https://clinicaltrials.gov/study/NCT02624310",
  "other_condition_trials": "",
  "plain_note": "NTRK1 causes congenital insensitivity to pain with anhidrosis (HSAN4), a recessive condition affecting pain sensation and sweating; ClinGen rates the link as Definitive."
 },
 {
  "gene": "PDK3",
  "hgnc_id": "HGNC:8811",
  "clingen_disease_label": "Charcot-Marie-Tooth disease X-linked dominant 6",
  "mondo_id": "MONDO:0010479",
  "inheritance": "XL",
  "clingen_classification": "Definitive",
  "classification_date": "2024-03-14",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_508a1db7-0cf1-4c28-9203-89a3f4d7438d-2024-03-14T160000.000Z",
  "type_named_in_label": "CMTX6",
  "curation_subtype_names": "CMTX6",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:300905",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMTX6",
  "subtype_mondo_ids": "MONDO:0010479",
  "omim_phenotype_ids": "OMIM:300905",
  "subtype_review_note": "",
  "phenotype": "axonal",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/; Primary Pyruvate Dehydrogenase Complex Deficiency Overview: https://www.ncbi.nlm.nih.gov/books/NBK571223/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/PDK3/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/PDK3/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "PDK3 causes an X-linked axonal form of CMT (CMTX6); ClinGen rates the link as Definitive."
 },
 {
  "gene": "PLEKHG5",
  "hgnc_id": "HGNC:29105",
  "clingen_disease_label": "neuromuscular disease",
  "mondo_id": "MONDO:0019056",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2023-09-06",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f2f5a6d-3b4f-4f4c-b560-50944b4ab34f-2023-09-06T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HMNR4; dSMA4; CMTRIC",
  "curation_names_basis": "gene-wide: this curation lists no MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HMNR4; dSMA4; CMTRIC",
  "subtype_mondo_ids": "MONDO:0012608; MONDO:0014154",
  "omim_phenotype_ids": "OMIM:611067; OMIM:615376",
  "subtype_review_note": "MONDO:0012608 \"neuronopathy, distal hereditary motor, autosomal recessive 4\" converted to OMIM-style symbol HMNR4; Mondo related synonyms: spinal muscular atrophy, distal, autosomal recessive, 4 | non-neuropathy associations ignored: neuromuscular disease",
  "phenotype": "intermediate; motor-predominant",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/PLEKHG5/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/PLEKHG5/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "PLEKHG5 causes recessive neuromuscular disorders that include a distal motor neuropathy and an intermediate form of CMT; ClinGen rates the link as Definitive."
 },
 {
  "gene": "PMP2",
  "hgnc_id": "HGNC:9117",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AD",
  "clingen_classification": "Moderate",
  "classification_date": "2025-05-29",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa4c5730-f807-45d7-afe7-573a3960916f-2025-05-29T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT1G",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:618279",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT1G",
  "subtype_mondo_ids": "MONDO:0033135",
  "omim_phenotype_ids": "OMIM:618279",
  "subtype_review_note": "",
  "phenotype": "demyelinating",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/PMP2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/PMP2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "PMP2 causes a dominantly inherited demyelinating form of CMT (CMT1G); ClinGen rates the evidence as Moderate."
 },
 {
  "gene": "PMP22",
  "hgnc_id": "HGNC:9118",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 1A",
  "mondo_id": "MONDO:0007309",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2022-10-10",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_169edbc0-b942-43f1-885d-8d47ccdb6d90-2022-10-10T160000.000Z",
  "type_named_in_label": "CMT1A",
  "curation_subtype_names": "CMT1A; Roussy-Levy syndrome",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "CMT1E; CMT3; DSS; HNPP",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:118220; OMIM:180800",
  "clingen_excluded_omim": "OMIM:118300; OMIM:139393; OMIM:145900; OMIM:162500",
  "historical_subtype_names": "CMT1E; CMT1A; Roussy-Levy syndrome; CMT3; DSS; HNPP",
  "subtype_mondo_ids": "MONDO:0007311; MONDO:0007309; MONDO:0008392; MONDO:0007790; MONDO:0008087",
  "omim_phenotype_ids": "OMIM:118300; OMIM:118220; OMIM:180800; OMIM:145900; OMIM:162500",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0020347 \"acute inflammatory demyelinating polyradiculoneuropathy\" | non-neuropathy associations ignored: Guillain-Barre syndrome, familial | SPOT-CHECK (reviewer knowledge, not source): consistent with expected CMT1A, CMT1E, HNPP, DSS/CMT3.",
  "phenotype": "demyelinating",
  "genereviews": "Hereditary Neuropathy with Liability to Pressure Palsies: https://www.ncbi.nlm.nih.gov/books/NBK1392/; Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/PMP22/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/PMP22/",
  "therapy_programs": "ascorbic acid (CMT1A), phase 2, completed: https://clinicaltrials.gov/study/NCT00271635; ascorbic acid (CMT1A), phase 2/3, completed: https://clinicaltrials.gov/study/NCT00484510; PXT3003 (CMT1A), phase 2, completed: https://clinicaltrials.gov/study/NCT01401257; PXT3003 (CMT1A), phase 3, completed: https://clinicaltrials.gov/study/NCT02579759; PXT3003 extension (CMT1A), phase 3, unknown: https://clinicaltrials.gov/study/NCT03023540; PXT3003 (CMT1A), phase 3, unknown: https://clinicaltrials.gov/study/NCT04762758; PXT3003 (CMT1A), phase 3, completed: https://clinicaltrials.gov/study/NCT05092841; ulipristal acetate (CMT1A), phase 2, terminated: https://clinicaltrials.gov/study/NCT02600286; scAAV1.tMCK.NTF3 gene therapy (CMT1A), phase 1/2, withdrawn: https://clinicaltrials.gov/study/NCT03520751; Engensis/VM202 (CMT1A), phase 1/2, completed: https://clinicaltrials.gov/study/NCT05361031; EN001 (CMT1A), phase 1, completed: https://clinicaltrials.gov/study/NCT05333406; EN001 (CMT1A), phase 1/2, recruiting: https://clinicaltrials.gov/study/NCT06328712; EDK060 (CMT1A), phase 1, recruiting: https://clinicaltrials.gov/study/NCT07140614",
  "other_condition_trials": "",
  "plain_note": "PMP22 is one of the most commonly involved CMT genes: an extra copy causes demyelinating CMT1A, and a missing copy usually causes HNPP, in which nerves are easily injured by pressure; ClinGen rates both links as Definitive."
 },
 {
  "gene": "PMP22",
  "hgnc_id": "HGNC:9118",
  "clingen_disease_label": "hereditary neuropathy with liability to pressure palsies",
  "mondo_id": "MONDO:0008087",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2024-07-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7502a7e-2a4e-4b85-8f7c-8d76fe94f294-2024-07-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HNPP",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "CMT1E; CMT1A; Roussy-Levy syndrome; CMT3; DSS",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:162500",
  "clingen_excluded_omim": "OMIM:118220; OMIM:118300; OMIM:139393; OMIM:145900; OMIM:180800",
  "historical_subtype_names": "CMT1E; CMT1A; Roussy-Levy syndrome; CMT3; DSS; HNPP",
  "subtype_mondo_ids": "MONDO:0007311; MONDO:0007309; MONDO:0008392; MONDO:0007790; MONDO:0008087",
  "omim_phenotype_ids": "OMIM:118300; OMIM:118220; OMIM:180800; OMIM:145900; OMIM:162500",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0020347 \"acute inflammatory demyelinating polyradiculoneuropathy\" | non-neuropathy associations ignored: Guillain-Barre syndrome, familial | SPOT-CHECK (reviewer knowledge, not source): consistent with expected CMT1A, CMT1E, HNPP, DSS/CMT3.",
  "phenotype": "demyelinating",
  "genereviews": "Hereditary Neuropathy with Liability to Pressure Palsies: https://www.ncbi.nlm.nih.gov/books/NBK1392/; Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/PMP22/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/PMP22/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "PMP22 is one of the most commonly involved CMT genes: an extra copy causes demyelinating CMT1A, and a missing copy usually causes HNPP, in which nerves are easily injured by pressure; ClinGen rates both links as Definitive."
 },
 {
  "gene": "PRX",
  "hgnc_id": "HGNC:13797",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 4",
  "mondo_id": "MONDO:0018995",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2023-01-10",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_471d2fcc-f9d4-49d7-92b9-d16f5f751d83-2023-01-10T170000.000Z",
  "type_named_in_label": "CMT4",
  "curation_subtype_names": "CMT3; DSS; CMT4F",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:145900; OMIM:614895",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT3; DSS; CMT4F",
  "subtype_mondo_ids": "MONDO:0007790; MONDO:0013959",
  "omim_phenotype_ids": "OMIM:145900; OMIM:614895",
  "subtype_review_note": "",
  "phenotype": "demyelinating",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/PRX/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/PRX/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "PRX causes a recessive form of CMT (CMT4F) described in reviews as demyelinating; ClinGen rates the link as Definitive."
 },
 {
  "gene": "RAB7A",
  "hgnc_id": "HGNC:9788",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 2",
  "mondo_id": "MONDO:0018993",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2022-02-10",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_222dbfa6-db75-42a0-bab6-338b46a316c3-2022-02-10T021034.172Z",
  "type_named_in_label": "CMT2",
  "curation_subtype_names": "CMT2B",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:600882",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT2B",
  "subtype_mondo_ids": "MONDO:0010949",
  "omim_phenotype_ids": "OMIM:600882",
  "subtype_review_note": "",
  "phenotype": "axonal; sensory-predominant",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/RAB7A/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/RAB7A/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "RAB7A causes a dominantly inherited axonal form of CMT (CMT2B) with prominent loss of sensation; ClinGen rates the link as Definitive."
 },
 {
  "gene": "RETREG1",
  "hgnc_id": "HGNC:25964",
  "clingen_disease_label": "hereditary sensory and autonomic neuropathy",
  "mondo_id": "MONDO:0015364",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2024-07-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0b9041f-06f2-47c8-b070-5d4cfaaeb2db-2024-07-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HSAN2B",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:613115",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HSAN2B",
  "subtype_mondo_ids": "MONDO:0013142",
  "omim_phenotype_ids": "OMIM:613115",
  "subtype_review_note": "dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: HSAN2 (MONDO:0019941)",
  "phenotype": "sensory-predominant",
  "genereviews": "Hereditary Sensory and Autonomic Neuropathy Type II: https://www.ncbi.nlm.nih.gov/books/NBK49247/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/RETREG1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/RETREG1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "RETREG1 causes a recessive hereditary sensory and autonomic neuropathy (HSAN2B); ClinGen rates the link as Definitive."
 },
 {
  "gene": "SBF1",
  "hgnc_id": "HGNC:10542",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 4B3",
  "mondo_id": "MONDO:0014117",
  "inheritance": "AR",
  "clingen_classification": "Moderate",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0f814d9-02db-4c0c-8e1c-20a7759d993f-2026-08-08T160000.000Z",
  "type_named_in_label": "CMT4B3",
  "curation_subtype_names": "CMT4B3",
  "curation_names_basis": "ClinGen disease term",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT4B3",
  "subtype_mondo_ids": "MONDO:0014117",
  "omim_phenotype_ids": "OMIM:615284",
  "subtype_review_note": "",
  "phenotype": "axonal; demyelinating",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SBF1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SBF1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "SBF1 has been linked to a recessive form of CMT (CMT4B3), described as demyelinating in one family and axonal in others; ClinGen rates the evidence as Moderate."
 },
 {
  "gene": "SBF2",
  "hgnc_id": "HGNC:2135",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 4B2",
  "mondo_id": "MONDO:0011475",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2021-03-22",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01893bf4-e95d-4206-9d2e-e3822f778b7a-2021-03-22T201309.257Z",
  "type_named_in_label": "CMT4B2",
  "curation_subtype_names": "CMT4B2",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:604563",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "CMT4B2",
  "subtype_mondo_ids": "MONDO:0011475",
  "omim_phenotype_ids": "OMIM:604563",
  "subtype_review_note": "SPOT-CHECK (reviewer knowledge, not source): consistent with expected CMT4B2.",
  "phenotype": "demyelinating",
  "genereviews": "[overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SBF2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SBF2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "SBF2 causes a recessive demyelinating form of CMT (CMT4B2); ClinGen rates the link as Definitive."
 },
 {
  "gene": "SCN11A",
  "hgnc_id": "HGNC:10583",
  "clingen_disease_label": "hereditary sensory and autonomic neuropathy type 7",
  "mondo_id": "MONDO:0014244",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_abe8c0db-503c-46fa-a2a6-e4d6071219d0-2026-08-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HSAN7",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "HSAN2D",
  "clingen_included_omim": "OMIM:615548",
  "clingen_excluded_omim": "OMIM:615552",
  "historical_subtype_names": "HSAN7; HSAN2D",
  "subtype_mondo_ids": "MONDO:0014244; MONDO:0009459",
  "omim_phenotype_ids": "OMIM:615548; OMIM:243000",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0017629 \"obsolete sodium channelopathy-related small fiber neuropathy\" | MONDO:0009459 \"channelopathy-associated congenital insensitivity to pain, autosomal recessive\" is not a subtype-pattern name; short form(s) taken from Mondo exact synonyms: HSAN2D | HSAN2D (MONDO:0009459) comes from a Monarch correlated (not causal) association only | non-neuropathy associations ignored: familial episodic pain syndrome with predominantly lower limb involvement; paroxysmal extreme pain disorder; primary erythermalgia | SPOT-CHECK (reviewer knowledge, not source): REVIEW: HSAN2D comes from correlated MONDO:0009459, a term usually tied to SCN9A; probably not a SCN11A subtype name.",
  "phenotype": "sensory-predominant",
  "genereviews": "[overview only] Congenital Insensitivity to Pain Overview: https://www.ncbi.nlm.nih.gov/books/NBK481553/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SCN11A/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SCN11A/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "SCN11A causes a dominantly inherited sensory and autonomic neuropathy (HSAN7) that can include digestive problems; ClinGen rates the link as Definitive."
 },
 {
  "gene": "SCO2",
  "hgnc_id": "HGNC:10604",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AR",
  "clingen_classification": "Moderate",
  "classification_date": "2026-04-10",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c1cc0ca-0471-496b-941f-4c7a0ae854ae-2026-04-10T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "",
  "curation_names_basis": "",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "",
  "subtype_mondo_ids": "",
  "omim_phenotype_ids": "",
  "subtype_review_note": "no subtype name found in Mondo/Monarch (OLS Mondo search by gene symbol also checked) | unconverted neuropathy-related Mondo term: MONDO:0033850 \"autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect\" | non-neuropathy associations ignored: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; fatal infantile encephalocardiomyopathy; myopia 6; obsolete rare isolated myopia | SPOT-CHECK (reviewer knowledge, not source): Mondo term is AR axonal CMT (unlettered) due to copper metabolism defect, Orphanet-derived; no subtype letter in Mondo.",
  "phenotype": "axonal; motor-predominant",
  "genereviews": "[overview only] Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview: https://www.ncbi.nlm.nih.gov/books/NBK320989/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SCO2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SCO2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "SCO2, also covered in GeneReviews' Leigh syndrome overview, has been linked to a recessive, mainly motor axonal neuropathy; ClinGen rates the evidence as Moderate."
 },
 {
  "gene": "SEPTIN9",
  "hgnc_id": "HGNC:7323",
  "clingen_disease_label": "neuralgic amyotrophy",
  "mondo_id": "MONDO:0017362",
  "inheritance": "AD",
  "clingen_classification": "Moderate",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d2bb3b1-6fd0-4ee9-8273-322c33597eff-2026-08-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:162100)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:162100",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "",
  "subtype_mondo_ids": "",
  "omim_phenotype_ids": "",
  "subtype_review_note": "no subtype name found in Mondo/Monarch (OLS Mondo search by gene symbol also checked) | unconverted neuropathy-related Mondo term: MONDO:0008076 \"amyotrophic neuralgia\" | unconverted neuropathy-related Mondo term: MONDO:0017362 \"neuralgic amyotrophy\"",
  "phenotype": "",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SEPT9/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SEPTIN9/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "SEPTIN9 causes hereditary neuralgic amyotrophy, a dominantly inherited condition with recurring attacks of shoulder or arm pain and weakness rather than typical CMT; ClinGen rates the evidence as Moderate."
 },
 {
  "gene": "SETX",
  "hgnc_id": "HGNC:445",
  "clingen_disease_label": "distal hereditary motor neuropathy",
  "mondo_id": "MONDO:0018894",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2022-08-03",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f355b8f-1cd9-401c-8f34-b9b3e2fe939b-2022-08-03T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "",
  "curation_names_basis": "",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "",
  "subtype_mondo_ids": "",
  "omim_phenotype_ids": "",
  "subtype_review_note": "no subtype name found in Mondo/Monarch (OLS Mondo search by gene symbol also checked) | unconverted neuropathy-related Mondo term: MONDO:0011223 \"amyotrophic lateral sclerosis type 4\" | unconverted neuropathy-related Mondo term: MONDO:0018996 \"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2\"",
  "phenotype": "motor-predominant",
  "genereviews": "Ataxia with Oculomotor Apraxia Type 2: https://www.ncbi.nlm.nih.gov/books/NBK1154/; Amyotrophic Lateral Sclerosis Overview: https://www.ncbi.nlm.nih.gov/books/NBK1450/; Hereditary Ataxia Overview: https://www.ncbi.nlm.nih.gov/books/NBK1138/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SETX/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SETX/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "SETX, which GeneReviews covers for a recessive ataxia (AOA2), also has a Definitive ClinGen link to a dominantly inherited distal motor neuropathy."
 },
 {
  "gene": "SH3TC2",
  "hgnc_id": "HGNC:29427",
  "clingen_disease_label": "Charcot-Marie-Tooth disease type 4C",
  "mondo_id": "MONDO:0011113",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d2b214f-3086-4012-bf4b-a6e651618f0b-2026-08-08T160000.000Z",
  "type_named_in_label": "CMT4C",
  "curation_subtype_names": "CMT4C",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:601596",
  "clingen_excluded_omim": "OMIM:613353",
  "historical_subtype_names": "CMT4C",
  "subtype_mondo_ids": "MONDO:0011113",
  "omim_phenotype_ids": "OMIM:601596",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0013237 \"susceptibility to mononeuropathy of the median nerve, mild\" | SPOT-CHECK (reviewer knowledge, not source): consistent with expected CMT4C.",
  "phenotype": "demyelinating",
  "genereviews": "SH3TC2-Related Hereditary Motor and Sensory Neuropathy: https://www.ncbi.nlm.nih.gov/books/NBK1340/; Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SH3TC2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SH3TC2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "SH3TC2 causes a recessive demyelinating form of CMT (CMT4C) in which early, severe scoliosis is common; ClinGen rates the link as Definitive."
 },
 {
  "gene": "SLC25A46",
  "hgnc_id": "HGNC:25198",
  "clingen_disease_label": "neuropathy, hereditary motor and sensory, type 6B",
  "mondo_id": "MONDO:0014671",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2020-05-26",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9852fb40-0df1-4668-ba57-38a4971cb244-2020-05-26T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HMSN6B",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:619303)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:616505; OMIM:619303",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HMSN6B",
  "subtype_mondo_ids": "MONDO:0014671",
  "omim_phenotype_ids": "OMIM:616505",
  "subtype_review_note": "dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: HMSN6 (MONDO:0019551) | non-neuropathy associations ignored: pontocerebellar hypoplasia type 1; pontocerebellar hypoplasia, type 1E",
  "phenotype": "axonal",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SLC25A46/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SLC25A46/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "SLC25A46 causes a recessive condition that combines optic atrophy with an axonal neuropathy (HMSN6B); ClinGen rates the link as Definitive."
 },
 {
  "gene": "SLC5A7",
  "hgnc_id": "HGNC:14025",
  "clingen_disease_label": "neuronopathy, distal hereditary motor, type 7A",
  "mondo_id": "MONDO:0008024",
  "inheritance": "AD",
  "clingen_classification": "Moderate",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6e46608-98f5-4e4d-9bcf-22e42997af6e-2026-08-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "dHMN7A",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:158580",
  "clingen_excluded_omim": "OMIM:617143",
  "historical_subtype_names": "dHMN7A",
  "subtype_mondo_ids": "MONDO:0008024",
  "omim_phenotype_ids": "OMIM:158580",
  "subtype_review_note": "dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: dHMN7 (MONDO:0015355) | non-neuropathy associations ignored: congenital myasthenic syndrome 20",
  "phenotype": "motor-predominant",
  "genereviews": "[overview only] Congenital Myasthenic Syndromes Overview: https://www.ncbi.nlm.nih.gov/books/NBK1168/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SLC5A7/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SLC5A7/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "SLC5A7 has been linked to a dominantly inherited distal motor neuropathy (dHMN7A) and is also listed among congenital myasthenic syndrome genes; ClinGen rates the motor neuropathy link as Moderate."
 },
 {
  "gene": "SORD",
  "hgnc_id": "HGNC:11184",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2023-04-13",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aac3d58a-b916-4b71-819f-ba4ef1de18d2-2023-04-13T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HMNR8",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:618912",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HMNR8",
  "subtype_mondo_ids": "MONDO:0030055",
  "omim_phenotype_ids": "OMIM:618912",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0017593 \"juvenile amyotrophic lateral sclerosis\" | MONDO:0030055 \"neuronopathy, distal hereditary motor, autosomal recessive 8\" converted to OMIM-style symbol HMNR8; Mondo related synonyms: none | SPOT-CHECK (reviewer knowledge, not source): REVIEW: Mondo/OMIM classify SORD only as a distal HMN (HMNR8); SORD neuropathy is widely described as CMT2/dHMN in the literature but Mondo gives no lettered CMT designation. Not overridden.",
  "phenotype": "axonal; intermediate",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SORD/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SORD/",
  "therapy_programs": "AT-007/govorestat (SORD deficiency), phase 2/3, completed: https://clinicaltrials.gov/study/NCT05397665; epalrestat (SORD-CMT), phase 2, unknown: https://clinicaltrials.gov/study/NCT05777226; govorestat confirmatory study (CMT-SORD), phase 3, withdrawn: https://clinicaltrials.gov/study/NCT07191912",
  "other_condition_trials": "",
  "plain_note": "SORD is among the most commonly involved genes in recessive CMT, causing an axonal or intermediate neuropathy with weakness and wasting of the muscles farthest from the trunk; ClinGen rates the link as Definitive."
 },
 {
  "gene": "SPTLC1",
  "hgnc_id": "HGNC:11277",
  "clingen_disease_label": "neuropathy, hereditary sensory and autonomic, type 1A",
  "mondo_id": "MONDO:0008086",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2026-03-31",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_609b735b-4782-47dc-ac38-f689671ccdac-2026-03-31T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HSAN1A",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:162400",
  "clingen_excluded_omim": "OMIM:620285",
  "historical_subtype_names": "HSAN1A",
  "subtype_mondo_ids": "MONDO:0008086",
  "omim_phenotype_ids": "OMIM:162400",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0859529 \"amyotrophic lateral sclerosis 27, juvenile\" | unconverted neuropathy-related Mondo term: MONDO:0017593 \"juvenile amyotrophic lateral sclerosis\" | dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: HSAN1 (MONDO:0018213)",
  "phenotype": "axonal; sensory-predominant",
  "genereviews": "SPTLC1-Related Hereditary Sensory Neuropathy: https://www.ncbi.nlm.nih.gov/books/NBK1390/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SPTLC1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SPTLC1/",
  "therapy_programs": "L-serine (HSAN1), phase 1/2, completed: https://clinicaltrials.gov/study/NCT01733407; L-serine (HSN1, SPTLC1/SPTLC2), phase 2, unknown: https://clinicaltrials.gov/study/NCT06113055",
  "other_condition_trials": "LTX-002, an SPTLC1-targeting antisense oligonucleotide, in ALS, phase 1/2, recruiting: https://clinicaltrials.gov/study/NCT07660614",
  "plain_note": "SPTLC1 causes a dominantly inherited axonal neuropathy marked by early loss of sensation and later shooting pains, and some variants are associated with a juvenile form of ALS; ClinGen rates the link as Definitive."
 },
 {
  "gene": "SPTLC2",
  "hgnc_id": "HGNC:11278",
  "clingen_disease_label": "neuropathy, hereditary sensory and autonomic, type 1C",
  "mondo_id": "MONDO:0013337",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2023-01-10",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2294e1cf-3aad-471e-a360-9f6f8c3b4d8f-2023-01-10T170000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HSAN1C",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:613640",
  "clingen_excluded_omim": "",
  "historical_subtype_names": "HSAN1C",
  "subtype_mondo_ids": "MONDO:0013337",
  "omim_phenotype_ids": "OMIM:613640",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0017593 \"juvenile amyotrophic lateral sclerosis\" | dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: HSAN1 (MONDO:0018213)",
  "phenotype": "sensory-predominant",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SPTLC2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SPTLC2/",
  "therapy_programs": "L-serine (HSN1, SPTLC1/SPTLC2), phase 2, unknown: https://clinicaltrials.gov/study/NCT06113055",
  "other_condition_trials": "",
  "plain_note": "SPTLC2 causes a dominantly inherited sensory and autonomic neuropathy (HSAN1C); ClinGen rates the link as Definitive."
 },
 {
  "gene": "SYT2",
  "hgnc_id": "HGNC:11510",
  "clingen_disease_label": "congenital myasthenic syndrome 7",
  "mondo_id": "MONDO:0014468",
  "inheritance": "AD",
  "clingen_classification": "Moderate",
  "classification_date": "2023-07-12",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff8871e1-5eed-4414-8137-432d57f328d1-2023-07-12T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:616040)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:616040",
  "clingen_excluded_omim": "OMIM:619461",
  "historical_subtype_names": "",
  "subtype_mondo_ids": "",
  "omim_phenotype_ids": "",
  "subtype_review_note": "no subtype name found in Mondo/Monarch (OLS Mondo search by gene symbol also checked) | non-neuropathy associations ignored: congenital myasthenic syndrome 7; myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive",
  "phenotype": "motor-predominant",
  "genereviews": "[overview only] Congenital Myasthenic Syndromes Overview: https://www.ncbi.nlm.nih.gov/books/NBK1168/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/SYT2/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/SYT2/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "SYT2 is covered by GeneReviews as a congenital myasthenic syndrome gene, and its dominant form can resemble a slowly progressive distal motor neuropathy; ClinGen rates the evidence as Moderate."
 },
 {
  "gene": "TRPV4",
  "hgnc_id": "HGNC:18083",
  "clingen_disease_label": "neuromuscular disease",
  "mondo_id": "MONDO:0019056",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2021-12-14",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b89b03c3-24c7-4424-989c-abd65eb2b7ec-2021-12-14T145310.482Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMT2C; HMND8",
  "curation_names_basis": "ClinGen included MIM phenotypes (unmatched: OMIM:181405)",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:606071; OMIM:600175; OMIM:181405",
  "clingen_excluded_omim": "OMIM:113500; OMIM:156530; OMIM:168400; OMIM:184095; OMIM:184252; OMIM:606835; OMIM:613508; OMIM:617383",
  "historical_subtype_names": "CMT2C; HMND8",
  "subtype_mondo_ids": "MONDO:0011633; MONDO:0010839",
  "omim_phenotype_ids": "OMIM:606071; OMIM:600175",
  "subtype_review_note": "unconverted neuropathy-related Mondo term: MONDO:0008408 \"scapuloperoneal spinal muscular atrophy, autosomal dominant\" | MONDO:0010839 \"neuronopathy, distal hereditary motor, autosomal dominant 8\" converted to OMIM-style symbol HMND8; Mondo related synonyms: HMN8, neuronopathy, distal hereditary motor, type VIII | non-neuropathy associations ignored: autosomal dominant brachyolmia; avascular necrosis of femoral head, primary, 2; familial avascular necrosis of femoral head; familial digital arthropathy-brachydactyly... | SPOT-CHECK (reviewer knowledge, not source): consistent with expected CMT2C and AD congenital distal SMA (HMND8, related synonym HMN8); scapuloperoneal SMA left in notes.",
  "phenotype": "axonal",
  "genereviews": "Autosomal Dominant TRPV4-Related Disorders: https://www.ncbi.nlm.nih.gov/books/NBK201366/; Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/TRPV4/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/TRPV4/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "TRPV4 causes a range of dominantly inherited neuromuscular and skeletal disorders, including an axonal form of CMT (CMT2C) that can involve the vocal cords; ClinGen rates the link as Definitive."
 },
 {
  "gene": "WARS1",
  "hgnc_id": "HGNC:12729",
  "clingen_disease_label": "distal hereditary motor neuropathy",
  "mondo_id": "MONDO:0018894",
  "inheritance": "AD",
  "clingen_classification": "Limited",
  "classification_date": "2026-08-08",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93643521-0988-4c4b-b458-988044cfad6f-2026-08-08T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "dHMN9",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:617721",
  "clingen_excluded_omim": "OMIM:620317",
  "historical_subtype_names": "dHMN9",
  "subtype_mondo_ids": "MONDO:0060585",
  "omim_phenotype_ids": "OMIM:617721",
  "subtype_review_note": "non-neuropathy associations ignored: autosomal recessive primary microcephaly; complex neurodevelopmental disorder; neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities",
  "phenotype": "axonal; motor-predominant",
  "genereviews": "",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/WARS/; Amber — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/WARS1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "WARS1 has been linked to a dominantly inherited distal motor neuropathy (dHMN9), but ClinGen rates the evidence only as Limited."
 },
 {
  "gene": "WNK1",
  "hgnc_id": "HGNC:14540",
  "clingen_disease_label": "neuropathy, hereditary sensory and autonomic, type 2A",
  "mondo_id": "MONDO:0024309",
  "inheritance": "AR",
  "clingen_classification": "Definitive",
  "classification_date": "2023-05-05",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28b83a4d-4a0f-4617-bc11-1effb9efe719-2023-05-05T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "HSAN2A",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:201300",
  "clingen_excluded_omim": "OMIM:614492",
  "historical_subtype_names": "HSAN2A",
  "subtype_mondo_ids": "MONDO:0024309",
  "omim_phenotype_ids": "OMIM:201300",
  "subtype_review_note": "dropped Mondo parent-group terms (no OMIM xref) in favour of their more specific subtypes: HSAN2 (MONDO:0019941) | non-neuropathy associations ignored: pseudohypoaldosteronism type 2C",
  "phenotype": "sensory-predominant",
  "genereviews": "Hereditary Sensory and Autonomic Neuropathy Type II: https://www.ncbi.nlm.nih.gov/books/NBK49247/; Pseudohypoaldosteronism Type II: https://www.ncbi.nlm.nih.gov/books/NBK65707/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/WNK1/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/WNK1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "WNK1 causes a recessive hereditary sensory and autonomic neuropathy (HSAN2A); ClinGen rates the link as Definitive."
 },
 {
  "gene": "YARS1",
  "hgnc_id": "HGNC:12840",
  "clingen_disease_label": "Charcot-Marie-Tooth disease",
  "mondo_id": "MONDO:0015626",
  "inheritance": "AD",
  "clingen_classification": "Definitive",
  "classification_date": "2020-04-28",
  "clingen_report": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c326f90-be08-4bb3-9593-b2df48f29ca1-2020-04-28T160000.000Z",
  "type_named_in_label": "",
  "curation_subtype_names": "CMTDIC",
  "curation_names_basis": "ClinGen included MIM phenotypes",
  "other_gene_names": "",
  "unverified_names": "",
  "rejected_names": "",
  "clingen_included_omim": "OMIM:608323",
  "clingen_excluded_omim": "OMIM:619418",
  "historical_subtype_names": "CMTDIC",
  "subtype_mondo_ids": "MONDO:0012012",
  "omim_phenotype_ids": "OMIM:608323",
  "subtype_review_note": "non-neuropathy associations ignored: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2",
  "phenotype": "intermediate",
  "genereviews": "YARS1 Deficiency: https://www.ncbi.nlm.nih.gov/books/NBK615917/; Charcot-Marie-Tooth Hereditary Neuropathy Overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/",
  "panelapp": "Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38): https://panelapp.genomicsengland.co.uk/panels/846/gene/YARS/; Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1): https://panelapp-aus.org/panels/3070/gene/YARS1/",
  "therapy_programs": "none found as of 2026-10-13",
  "other_condition_trials": "",
  "plain_note": "YARS1 causes a dominantly inherited intermediate form of CMT (CMTDIC); ClinGen rates the link as Definitive."
 }
]