Previous symbols: SPG43. Aliases: MGC10922, DKFZP762D096, NBIA4, MPAN.
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 |
|---|---|---|
| Complex Hereditary Spastic Paraplegia | untyped |
mechanism: Pleiotropic SPG-Protein Dysfunction Beyond the Corticospinal Tract
subtype: SPG43
scoped to subtype: SPG43
|
| Neurodegeneration With Brain Iron Accumulation |
untyped
Causal variants
|
mechanism: Genetic pathway heterogeneity
subtype: MPAN
scoped to subtype: MPAN
|
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 |
|---|---|---|---|
| neurodegeneration with brain iron accumulation 4 MONDO:0013674 | AD | Moderate 2023-02-28 |
|
| neurodegeneration with brain iron accumulation 4 MONDO:0013674 | AR | Definitive 2023-02-28 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.