Previous symbols: CMT1A. Aliases: HNPP, GAS3, Sp110, HMSNIA.
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 |
|---|---|---|
| Charcot-Marie-Tooth Disease Type 1E | causative germline dominant negative |
mechanism: PMP22 Transmembrane-Domain Missense Mutation
|
| Congenital Hypomyelinating Neuropathy | causative germline |
mechanism: Myelination Gene Lesion in Developing Schwann Cells
|
| Charcot-Marie-Tooth Disease |
untyped
Causal
|
treatment: PMP22-Lowering Antisense Oligonucleotide
|
| Charcot-Marie-Tooth Disease Type 1 |
untyped
Causal
|
mechanism: PMP22 Overexpression and Dysmyelination
subtype: CMT1A
scoped to subtype: CMT1A
|
| Hereditary Neuropathy with Liability to Pressure Palsies |
untyped
Causal deletion or pathogenic variant leading to PMP22 haploinsufficiency
|
mechanism: PMP22 Haploinsufficiency and Junctional Myelin Instability
|
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 type 1A MONDO:0007309 | AD | Definitive 2022-10-10 |
|
| hereditary neuropathy with liability to pressure palsies MONDO:0008087 | AD | Definitive 2024-07-08 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.