SCN4A - 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
Hyperkalemic Periodic Paralysis	causative germline gain of function	mechanism: SCN4A Gain-of-Function Missense Variant animal model: Scn4a M1592V knock-in mouse
Hypokalemic Periodic Paralysis	causative	mechanism: Gating-Pore Leak Current subtype: Type 2 scoped to subtype: Type 2
Sarcopenia	biomarker

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
SCN4A-related myopathy, autosomal recessive MONDO:0100121	AR	Definitive 2021-05-13	no dismech entry

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