TTR

transthyretin

2 disorders 2 causative 18q12.1 gene with protein product

HGNC:12405 Monarch NCBI Gene 7276 ENSG00000118271 UniProt P02766 OMIM 176300

Previous symbols: PALB, CTS1. Aliases: HsT2651, CTS.

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
Amyloidosis	causative germline	mechanism: TTR Tetramer Destabilization and Monomer Release animal model: Mus musculus treatment: Eplontersen; Inotersen; Patisiran; Vutrisiran scoped to subtype: ATTRv
Hereditary Transthyretin Amyloidosis	causative	mechanism: Amyloidogenic Variant TTR Precursor; Hepatic TTR Transcript Abundance treatment: Eplontersen; Inotersen; Patisiran; Vutrisiran

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
obsolete hereditary ATTR amyloidosis MONDO:0017132	AD	Definitive 2017-12-11	no dismech entry

Mechanism modules · computed from kb/

amyloidogenesis via Amyloidosis, Hereditary Transthyretin Amyloidosis
rnai_gene_silencing via Hereditary Transthyretin Amyloidosis named in the module itself

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