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Cardiomyopathies - including childhood onset

Gene: TNNT2

Green List (high evidence)

TNNT2 (troponin T2, cardiac type)
EnsemblGeneIds (GRCh38): ENSG00000118194
EnsemblGeneIds (GRCh37): ENSG00000118194
OMIM: 191045, Gene2Phenotype
TNNT2 is in 7 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

Cardiomyopathy, dilated, 1D OMIM#601494; Cardiomyopathy, familial restrictive, 3 OMIM#612422; Cardiomyopathy, hypertrophic, 2 OMIM#115195; Left ventricular noncompaction 6 OMIM#601494
Created: 25 Mar 2019, 4:30 p.m.
Key cardiomyopathy gene. Disease is in early adulthood but Townsend Genomics. 1994 May 15;21(2):311-6 describes a variant tracking in family and found in two paeditric cases.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1D
  • Cardiomyopathy, familial hypertrophic, 2
  • Hypertrophic cardiomyopathy
  • Left ventricular noncompaction 6,
OMIM
191045
Clinvar variants
Variants in TNNT2
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TNNT2.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TNNT2 was added gene: TNNT2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial hypertrophic, 2; Hypertrophic cardiomyopathy; Left ventricular noncompaction 6,