Previous symbols: SPG2, PLP. Aliases: GPM6C.
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 |
|---|---|---|
| Chromosome Xq Duplication | untyped |
mechanism: Increased PLP1 Dosage and Central Dysmyelination
subtype: Xq21-q24
|
| Complex Hereditary Spastic Paraplegia | untyped |
mechanism: Pleiotropic SPG-Protein Dysfunction Beyond the Corticospinal Tract
subtype: XL Complex HSP
scoped to subtype: XL Complex HSP
|
| Pelizaeus-Merzbacher Disease |
untyped
Causative
|
mechanism: PLP1 Gene Duplication Causing Overexpression; PLP1 Missense Mutation Causing Protein Misfolding; PLP1 Null Mutation Causing Axon-Glial Support Failure
|
| Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy | no genetic record |
mechanism: RAVER2/PTB-Dependent PLP1 Spliceopathy
|
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 |
|---|---|---|---|
| Pelizaeus-Merzbacher spectrum disorder MONDO:0010714 | XL | Definitive 2018-03-07 |
Pelizaeus-Merzbacher Disease
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.