Previous symbols: CMT4A. Aliases: CMT4, CMT2K.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Autosomal dominant Charcot-Marie-Tooth disease type 2K | causative germline | |
| Intermediate Charcot-Marie-Tooth Disease | causative germline |
mechanism: GDAP1 Loss of Axonal and Schwann-Cell Integrity
subtype: RI-CMTA
scoped to subtype: RI-CMTA
|
| Charcot-Marie-Tooth Disease Type 2 |
untyped
Causative
|
mechanism: Impaired Mitochondrial Fission
subtype: CMT2K
scoped to subtype: CMT2K
|
| Charcot-Marie-Tooth Disease Type 4 |
untyped
Causal
|
mechanism: GDAP1 Mitochondrial Dynamics Defect
subtype: CMT4A
scoped to subtype: CMT4A
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Charcot-Marie-Tooth disease MONDO:0015626 | SD | Definitive 2020-07-28 |
Charcot-Marie-Tooth Disease
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.