Previous symbols: TCD, DXS540. Aliases: REP-1.
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 |
|---|---|---|
| Choroideremia | causative | |
| Choroideremia-Deafness-Obesity Syndrome | causative | |
| Inherited Retinal Dystrophy |
untyped
Causative
|
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 |
|---|---|---|---|
| choroideremia MONDO:0010557 | XL | Definitive 2020-10-26 |
Choroideremia
causative
Inherited Retinal Dystrophy
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.