Previous symbols: SPG46. Aliases: KIAA1605, AD035, DKFZp762K054.
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 46 | causative germline | |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
untyped
Causative
|
mechanism: Biallelic GBA2 Loss of Function
animal model: mouse (Mus musculus); zebrafish (Danio rerio)
|
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 |
|---|---|---|---|
| complex hereditary spastic paraplegia MONDO:0015150 | AR | Definitive 2024-05-02 |
Complex Hereditary Spastic Paraplegia
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.