Previous symbols: CCHL1A1, CACNL1A1, CACNA1C-IT2. Aliases: Cav1.2, CACH2, CACN2, TS, LQT8.
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 |
|---|---|---|
| Brugada syndrome | disputed | |
| Bipolar Disorder |
untyped
Risk Factor
|
|
| Familial Long QT Syndrome |
untyped
Pathogenic Variants
|
mechanism: Impaired Calcium-Dependent Inactivation of the L-Type Calcium Current
subtype: Type 8
scoped to subtype: Type 8
|
| Short QT Syndrome |
untyped
Causative
|
mechanism: Ion-channel gain- and loss-of-function variants
subtype: SQTS4
scoped to subtype: SQTS4
|
| Timothy Syndrome |
untyped
Pathogenic Variants
|
mechanism: CACNA1C gain-of-function with impaired Cav1.2 inactivation; Fever-triggered CaV1.2 activation and lowered arrhythmia/seizure threshold
|
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 |
|---|---|---|---|
| short QT syndrome MONDO:0000453 | AD | Disputed 2020-08-03 |
Short QT Syndrome
untyped
|
| long QT syndrome MONDO:0002442 | AD | Moderate 2020-04-24 |
no dismech entry |
| Timothy syndrome MONDO:0010979 | AD | Definitive 2023-04-14 |
Timothy Syndrome
untyped
|
| Brugada syndrome MONDO:0015263 | AD | Disputed 2025-02-25 |
Brugada syndrome
disputed
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.