Cardiomyopathies - including childhood onsetGene: TNNC1
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, 1Z OMIM#611879; Cardiomyopathy, hypertrophic, 13 OMIM#613243
Created: 25 Mar 2019, 4:30 p.m.
Key cardiomyopathy gene. Experience in the lab of paeditatric onset disease. Parvatiyar J Biol Chem. 2012 Sep 14; 287(38): 3184531855: reported cardiomyopathy onset in a 5 year old.
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 TNNC1.
gene: TNNC1 was added gene: TNNC1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated, 1Z; Cardiomyopathy, familial hypertrophic, 13,