STAC3 - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

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
Bailey-Bloch Congenital Myopathy	causative loss of function	mechanism: Anesthetic-Triggered Malignant Hyperthermia Susceptibility; Biallelic STAC3 Loss of Function
Malignant hyperthermia of anesthesia	untyped Disease-associated	mechanism: Trigger-dependent RyR1 calcium dysregulation

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
Bailey-Bloch congenital myopathy MONDO:0009722	AR	Definitive 2020-04-25	Bailey-Bloch Congenital Myopathy causative

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.