Incidentalome
Gene: TNNT2

TNNT2 (troponin T2, cardiac type)
EnsemblGeneIds (GRCh38): ENSG00000118194
EnsemblGeneIds (GRCh37): ENSG00000118194
OMIM: 191045, Gene2Phenotype
TNNT2 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen for DCM and HCM, multiple families, functional data. The p.Lys210del variant is a recurrent pathogenic variant.
Created: 18 May 2021, 3:48 a.m. | Last Modified: 12 Aug 2022, 1:56 a.m.

Panel Version: 0.160

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1D, MIM# 601494; Cardiomyopathy, hypertrophic, 2, MIM# 115195; Cardiomyopathy, familial restrictive, 3, MIM# 612422; Left ventricular noncompaction 6, MIM# 601494

Publications

Created: 18 May 2021, 3:48 a.m.
Last Modified: 12 Aug 2022, 1:56 a.m.
Panel version: 0.160

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

DEFINITIVE by ClinGen HCM working group PMID: 30681346
Created: 19 Jun 2020, 2:36 p.m. | Last Modified: 19 Jun 2020, 2:36 p.m.

Panel Version: 0.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HCM; LVNC; RCM; DCM

Publications

PMID: 30681346

Created: 19 Jun 2020, 2:36 p.m.
Last Modified: 19 Jun 2020, 2:36 p.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.28

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, 1D, MIM# 601494
Cardiomyopathy, hypertrophic, 2, MIM# 115195
Cardiomyopathy, familial restrictive, 3, MIM# 612422
Left ventricular noncompaction 6, MIM# 601494

Tags

cardiac

OMIM

191045

Clinvar variants

Variants in TNNT2

Penetrance

None

Publications

Panels with this gene