TPM2

tropomyosin 2

2 disorders 2 untyped 9p13.3 gene with protein product

HGNC:12011 Monarch NCBI Gene 7169 ENSG00000198467 UniProt P07951 OMIM 190990

Previous symbols: AMCD1. Aliases: DA1, NEM4.

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
Camptodactyly	untyped Pathogenic Variants
Nemaline Myopathy	untyped Causative	mechanism: Thin Filament Dysfunction subtype: NEM4

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
TPM2-related myopathy MONDO:0100196	AD	Definitive 2021-01-04	no dismech entry

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