Cardiomyopathies - including childhood onsetGene: TNNT2
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
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
Source NHS GMS was added to TNNT2.
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,