Previous symbols: CMAR. Aliases: CAR, SPG5C.
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 |
|---|---|---|
| Hereditary Spastic Paraplegia 7 | causative |
mechanism: Paraplegin Loss and m-AAA Protease Deficiency
|
| Spastic Ataxia | causative |
mechanism: Mitochondrial Proteotoxic Stress Signaling
subtype: SPG7-associated spastic ataxia
scoped to subtype: SPG7-associated spastic ataxia
|
| Complex Hereditary Spastic Paraplegia | untyped |
mechanism: Pleiotropic SPG-Protein Dysfunction Beyond the Corticospinal Tract
subtype: AR Complex HSP
scoped to subtype: AR Complex HSP
|
| Hereditary Spastic Paraplegia | untyped |
mechanism: Paraplegin Mitochondrial Quality-Control and OXPHOS Failure (SPG7)
subtype: SPG7
scoped to subtype: SPG7
|
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 |
|---|---|---|---|
| mitochondrial disease MONDO:0044970 | AD | Disputed 2026-02-19 |
no dismech entry |
| mitochondrial disease MONDO:0044970 | AR | Definitive 2026-02-19 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.