Open CMT Gene Table

AARS1 is an established cause of a dominantly inherited axonal form of CMT (CMT2N); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

ARHGEF10 has been linked to dominantly inherited slowing of nerve conduction, but ClinGen rates the evidence only as Limited, so the link is uncertain.

Trials: none found as of 2026-10-13

PanelApp: Amber — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Amber — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: Spastic Paraplegia 3A; Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

ATL3 causes a dominantly inherited hereditary sensory neuropathy (HSN1F); ClinGen rates the evidence as Moderate.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

ATP1A1 is an established cause of a dominantly inherited axonal form of CMT (CMT2DD); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

ATP7A, which GeneReviews covers for copper-transport disorders, can also cause an X-linked distal motor neuropathy; ClinGen rates that link as Moderate.

Trials: none found as of 2026-10-13

GeneReviews: ATP7A-Related Copper Transport Disorders

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: BSCL2-Related Neurologic Disorders / Seipinopathy; Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview; Primary Coenzyme Q10 Deficiency Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

DNAJB2 causes a recessive neuropathy that mainly affects the motor nerves (a distal hereditary motor neuropathy); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

DNM2 causes a dominantly inherited intermediate form of CMT; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview; Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: Epidermolysis Bullosa Simplex

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: DYNC1H1-Related Disorders; Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

EGR2 causes demyelinating forms of CMT that can be inherited in a dominant or a recessive pattern; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: kinetin (familial dysautonomia), phase 1, completed; phosphatidylserine (familial dysautonomia), phase 2, completed; carbidopa for nausea (familial dysautonomia), phase 3, completed; carbidopa for blood-pressure variability (familial dysautonomia), phase 2, completed; bronchodilators (familial dysautonomia), phase 3, completed; dronabinol (familial dysautonomia), phase 2, withdrawn; sublingual dexmedetomidine for autonomic crises (familial dysautonomia), phase 2, active not recruiting; sublingual dexmedetomidine for autonomic crises (familial dysautonomia), phase 2, enrolling by invitation

GeneReviews: Familial Dysautonomia

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: FBLN5-Related Cutis Laxa

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

FBXO38 has been linked to a dominantly inherited distal motor neuropathy; ClinGen rates the evidence as Moderate.

Trials: none found as of 2026-10-13

PanelApp: Amber — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Amber — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

FGD4 causes a recessive demyelinating form of CMT (CMT4H); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

FIG4 causes a recessive demyelinating form of CMT (CMT4J); ClinGen rates the link as Definitive.

Trials: ELP-02 intrathecal gene therapy (CMT4J), phase 1/2, recruiting

GeneReviews: [overview only] Amyotrophic Lateral Sclerosis Overview; Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: scAAV9/JeT-GAN intrathecal gene transfer, phase 1, completed; scAAV9/JeT-GAN into the vagus nerve, phase 1, recruiting

GeneReviews: GAN-Related Neurodegeneration

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

GARS1 causes a dominantly inherited axonal neuropathy that often starts in the hands and can be mainly motor; ClinGen rates the link as Definitive.

Trials: nL-GARS1-001 personalized antisense oligonucleotide, single participant (CMT2D), phase 1/2, enrolling by invitation

GeneReviews: GARS-Associated Axonal Neuropathy; Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

GDAP1 can cause axonal, demyelinating or intermediate CMT, in dominant and recessive forms; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes; Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

GNB4 causes a dominantly inherited intermediate form of CMT; ClinGen rates the evidence as Moderate.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

HINT1 causes a recessive axonal neuropathy that can be accompanied by neuromyotonia; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

HSPB8 causes a dominantly inherited axonal neuropathy, often of adult onset, that ClinGen curates as a distal motor neuropathy with Definitive evidence.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

IGHMBP2 causes recessive conditions ranging from spinal muscular atrophy with respiratory distress (SMARD1) to an axonal CMT (CMT2S); ClinGen rates the link as Definitive.

Trials: AAV9-IGHMBP2 intrathecal gene therapy (SMARD1, CMT2S), phase 1/2, enrolling by invitation; VCA-894A antisense oligonucleotide, single participant (CMT2S), phase 1/2, active not recruiting

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

INF2 causes a dominantly inherited intermediate form of CMT that can come with a kidney disease (glomerulosclerosis); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

ITPR3 causes a dominantly inherited demyelinating CMT (CMT1J) whose age of onset and severity vary widely; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

KIF1B has been proposed as a cause of a dominantly inherited axonal CMT (CMT2A1), but ClinGen rates the evidence only as Limited.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Red — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Red — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

LITAF causes a dominantly inherited demyelinating form of CMT (CMT1C); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

LRSAM1 causes an axonal form of CMT (CMT2P) in dominant and recessive forms; ClinGen rates the dominant link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

MARS1 has been linked to a dominantly inherited axonal CMT (CMT2U), but ClinGen rates the evidence only as Limited.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Red — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Red — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

MCM3AP causes a recessive, often severe neuropathy beginning in childhood, with or without intellectual disability; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

MED25 was reported as a cause of a recessive axonal CMT (CMT2B2), but ClinGen classifies that claim as Disputed.

Trials: none found as of 2026-10-13

PanelApp: Red — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Red — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: MFN2 Hereditary Motor and Sensory Neuropathy; Charcot-Marie-Tooth Hereditary Neuropathy Overview; Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

MME causes an axonal form of CMT (CMT2T) reported in recessive and dominant forms; ClinGen rates the recessive link as Definitive.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

MORC2 causes a dominantly inherited axonal form of CMT (CMT2Z); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

MTMR2 causes a recessive demyelinating form of CMT (CMT4B1) that can involve the vocal cords; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

NEFH causes a dominantly inherited axonal form of CMT (CMT2CC); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

NEFL can cause axonal or demyelinating CMT in dominant and recessive forms; ClinGen rates both links as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

NEFL can cause axonal or demyelinating CMT in dominant and recessive forms; ClinGen rates both links as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

NGF causes a recessive hereditary sensory and autonomic neuropathy (HSAN5), which GeneReviews covers with congenital insensitivity to pain; ClinGen rates the evidence as Strong.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Congenital Insensitivity to Pain Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

NTRK1 causes congenital insensitivity to pain with anhidrosis (HSAN4), a recessive condition affecting pain sensation and sweating; ClinGen rates the link as Definitive.

Trials: droxidopa (congenital insensitivity to pain with anhidrosis, HSAN4), phase 2, withdrawn

GeneReviews: NTRK1 Congenital Insensitivity to Pain with Anhidrosis; Congenital Insensitivity to Pain Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

PDK3 causes an X-linked axonal form of CMT (CMTX6); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview; Primary Pyruvate Dehydrogenase Complex Deficiency Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

PLEKHG5 causes recessive neuromuscular disorders that include a distal motor neuropathy and an intermediate form of CMT; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

PMP2 causes a dominantly inherited demyelinating form of CMT (CMT1G); ClinGen rates the evidence as Moderate.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: ascorbic acid (CMT1A), phase 2, completed; ascorbic acid (CMT1A), phase 2/3, completed; PXT3003 (CMT1A), phase 2, completed; PXT3003 (CMT1A), phase 3, completed; PXT3003 extension (CMT1A), phase 3, unknown; PXT3003 (CMT1A), phase 3, unknown; PXT3003 (CMT1A), phase 3, completed; ulipristal acetate (CMT1A), phase 2, terminated; scAAV1.tMCK.NTF3 gene therapy (CMT1A), phase 1/2, withdrawn; Engensis/VM202 (CMT1A), phase 1/2, completed; EN001 (CMT1A), phase 1, completed; EN001 (CMT1A), phase 1/2, recruiting; EDK060 (CMT1A), phase 1, recruiting

GeneReviews: Hereditary Neuropathy with Liability to Pressure Palsies; Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: Hereditary Neuropathy with Liability to Pressure Palsies; Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

PRX causes a recessive form of CMT (CMT4F) described in reviews as demyelinating; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

RAB7A causes a dominantly inherited axonal form of CMT (CMT2B) with prominent loss of sensation; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

RETREG1 causes a recessive hereditary sensory and autonomic neuropathy (HSAN2B); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: Hereditary Sensory and Autonomic Neuropathy Type II

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

SBF2 causes a recessive demyelinating form of CMT (CMT4B2); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

SCN11A causes a dominantly inherited sensory and autonomic neuropathy (HSAN7) that can include digestive problems; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Congenital Insensitivity to Pain Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

SCO2, also covered in GeneReviews' Leigh syndrome overview, has been linked to a recessive, mainly motor axonal neuropathy; ClinGen rates the evidence as Moderate.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

SETX, which GeneReviews covers for a recessive ataxia (AOA2), also has a Definitive ClinGen link to a dominantly inherited distal motor neuropathy.

Trials: none found as of 2026-10-13

GeneReviews: Ataxia with Oculomotor Apraxia Type 2; Amyotrophic Lateral Sclerosis Overview; Hereditary Ataxia Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

SH3TC2 causes a recessive demyelinating form of CMT (CMT4C) in which early, severe scoliosis is common; ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: SH3TC2-Related Hereditary Motor and Sensory Neuropathy; Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

SLC25A46 causes a recessive condition that combines optic atrophy with an axonal neuropathy (HMSN6B); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Congenital Myasthenic Syndromes Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: AT-007/govorestat (SORD deficiency), phase 2/3, completed; epalrestat (SORD-CMT), phase 2, unknown; govorestat confirmatory study (CMT-SORD), phase 3, withdrawn

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: L-serine (HSAN1), phase 1/2, completed; L-serine (HSN1, SPTLC1/SPTLC2), phase 2, unknown

Trials in other conditions: LTX-002, an SPTLC1-targeting antisense oligonucleotide, in ALS, phase 1/2, recruiting

GeneReviews: SPTLC1-Related Hereditary Sensory Neuropathy

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

SPTLC2 causes a dominantly inherited sensory and autonomic neuropathy (HSAN1C); ClinGen rates the link as Definitive.

Trials: L-serine (HSN1, SPTLC1/SPTLC2), phase 2, unknown

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: [overview only] Congenital Myasthenic Syndromes Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

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.

Trials: none found as of 2026-10-13

GeneReviews: Autosomal Dominant TRPV4-Related Disorders; Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

WARS1 has been linked to a dominantly inherited distal motor neuropathy (dHMN9), but ClinGen rates the evidence only as Limited.

Trials: none found as of 2026-10-13

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Amber — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

WNK1 causes a recessive hereditary sensory and autonomic neuropathy (HSAN2A); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: Hereditary Sensory and Autonomic Neuropathy Type II; Pseudohypoaldosteronism Type II

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)

YARS1 causes a dominantly inherited intermediate form of CMT (CMTDIC); ClinGen rates the link as Definitive.

Trials: none found as of 2026-10-13

GeneReviews: YARS1 Deficiency; Charcot-Marie-Tooth Hereditary Neuropathy Overview

PanelApp: Green — Hereditary neuropathy or pain disorder (Genomics England PanelApp panel 846, v8.38); Green — Hereditary Neuropathy (PanelApp Australia panel 3070, v3.1)