Previous symbols: HOKPP, MHS5, CACNL1A3. Aliases: Cav1.1, hypoPP.
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 |
|---|---|---|
| Centronuclear Myopathy | causative |
mechanism: CACNA1S voltage-sensor dysfunction
subtype: CACNA1S-CNM
scoped to subtype: CACNA1S-CNM
|
| Hypokalemic Periodic Paralysis | causative |
mechanism: Gating-Pore Leak Current
subtype: Type 1
scoped to subtype: Type 1
|
| Malignant hyperthermia of anesthesia |
untyped
Causative
|
mechanism: Trigger-dependent RyR1 calcium dysregulation
|
| Bailey-Bloch Congenital Myopathy | no genetic record |
mechanism: Reduced CaV1.1 Junctional Expression
|
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 |
|---|---|---|---|
| malignant hyperthermia, susceptibility to, 5 MONDO:0011163 | AD | Moderate 2023-04-26 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.