Incidentalome
Gene: TPM1

TPM1 (tropomyosin 1)
EnsemblGeneIds (GRCh38): ENSG00000140416
EnsemblGeneIds (GRCh37): ENSG00000140416
OMIM: 191010, Gene2Phenotype
TPM1 is in 9 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Several families reported, including ones with extensive segregation evidence; functional data, including animal model.

MODERATE by ClinGen for DCM.
DEFINITIVE for HCM.
Created: 18 May 2021, 9:13 a.m. | Last Modified: 12 Aug 2022, 1:59 a.m.

Panel Version: 0.163

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1Y, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196

Publications

Created: 18 May 2021, 9:13 a.m.
Last Modified: 12 Aug 2022, 1:59 a.m.
Panel version: 0.163

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

DEFINITIVE evidence by ClinGen HCM working group PMID: 30681346
Created: 21 Jun 2020, 6:44 a.m. | Last Modified: 21 Jun 2020, 6:44 a.m.

Panel Version: 0.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HCM

Publications

PMID: 30681346

Created: 21 Jun 2020, 6:44 a.m.
Last Modified: 21 Jun 2020, 6:44 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.67

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

Well known gene-disease association.
Mechanism not established, but likely gain of function; it's possible that HCM variants are GoF, whilst DCM variants are LoF (PMID: 31270709).
Created: 11 Feb 2020, 1:25 a.m. | Last Modified: 11 Feb 2020, 1:25 a.m.

Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1Y, 611878; Cardiomyopathy, hypertrophic, 3, 115196; Left ventricular noncompaction 9, 611878

Publications

31270709

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Feb 2020, 12:44 a.m.
Last Modified: 11 Feb 2020, 12:44 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.11

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Cardiomyopathy, dilated, 1Y, MIM# 611878
Cardiomyopathy, hypertrophic, 3, MIM# 115196

Tags

cardiac

OMIM

191010

Clinvar variants

Variants in TPM1

Penetrance

None

Publications

Panels with this gene