Previous symbols: SPG5A.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
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 5A | causative germline loss of function |
mechanism: CYP7B1 Oxysterol 7alpha-Hydroxylase Deficiency
|
| Inborn Disorder of Bile Acid Synthesis | no genetic record |
mechanism: Hepatic Bile Acid Synthetic Enzyme Deficiency
subtype: BASD Type 3
|
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 |
|---|---|---|---|
| CYP7B1-related disorder of oxysterol accumulation MONDO:1060107 | AR | Definitive 2025-02-28 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.