TCAP

titin-cap

2 disorders 1 untyped 1 disputed 17q12 gene with protein product

HGNC:11610 Monarch NCBI Gene 8557 ENSG00000173991 UniProt O15273 OMIM 604488

Previous symbols: LGMD2G. Aliases: T-cap, TELE, telethonin, CMD1N.

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
Hypertrophic Cardiomyopathy 25	disputed	mechanism: Telethonin Z-Disc Titin-Capping and Stretch-Sensor Perturbation
Dilated Cardiomyopathy	untyped Pathogenic Variants	mechanism: Sarcomeric and Cytoskeletal Dysfunction

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
dilated cardiomyopathy MONDO:0005021	AD	Limited 2025-04-18	Dilated Cardiomyopathy untyped
hypertrophic cardiomyopathy MONDO:0005045	AD	Disputed 2022-09-14	Hypertrophic Cardiomyopathy not named
autosomal recessive limb-girdle muscular dystrophy MONDO:0015152	AR	Definitive 2024-08-14	Autosomal Recessive Limb-Girdle Muscular Dystrophy not named

Mechanism modules · computed from kb/

cardiomyopathy_maladaptive_remodeling via Hypertrophic Cardiomyopathy 25

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