Aliases: TRISK.
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 |
|---|---|---|
| Familial Long QT Syndrome | causative |
subtype: Type 16
scoped to subtype: Type 16
|
| RYR2 CPVT |
untyped
Causative
|
mechanism: Triadin Deficiency
subtype: CPVT5
|
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 |
|---|---|---|---|
| long QT syndrome MONDO:0002442 | AR | Strong 2020-04-24 |
no dismech entry |
| catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 | AR | Definitive 2021-01-20 |
RYR2 CPVT
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.