CAPN3 - 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
Limb-Girdle Muscular Dystrophy, Autosomal Dominant	causative germline	mechanism: Dominant-Negative CAPN3 Dysfunction and Sarcomere Remodeling Defect subtype: LGMD-D4 scoped to subtype: LGMD-D4
Autosomal Recessive Limb-Girdle Muscular Dystrophy	untyped	mechanism: Calpain-3 Deficiency and Impaired Sarcomere Remodelling subtype: LGMDR1 scoped to subtype: LGMDR1

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
muscular dystrophy, limb-girdle, autosomal dominant MONDO:0015151	AD	Definitive 2025-05-13	Limb-Girdle Muscular Dystrophy, Autosomal Dominant causative
autosomal recessive limb-girdle muscular dystrophy MONDO:0015152	AR	Definitive 2024-08-29	Autosomal Recessive Limb-Girdle Muscular Dystrophy untyped

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