Previous symbols: SCA5.
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 Cerebellar Ataxia Type III | causative |
mechanism: SPTBN2-Dependent Postsynaptic Organization Defect
subtype: SCA5
animal model: mouse (Mus musculus)
scoped to subtype: SCA5
|
| Autosomal Dominant Cerebellar Ataxia | no genetic record |
mechanism: Conventional Dominant Disease Variant
|
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 |
|---|---|---|---|
| spinocerebellar ataxia type 5 MONDO:0010848 | AD | Definitive 2025-09-10 |
|
| autosomal recessive spinocerebellar ataxia 14 MONDO:0014159 | AR | Definitive 2026-05-13 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.