Molecular autopsy
Gene: TNNT2
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. 153 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 2, association with dilated cardiomyopathy 1D (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1D (601494); Cardiomyopathy, familial restrictive, 3 (612422); Cardiomyopathy, hypertrophic, 2 (115195); Left ventricular noncompaction 6 (601494)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to TNNT2.
Source North West GLH was added to TNNT2. Added phenotypes Cardiomyopathy, familial restrictive, 3 (612422); Cardiomyopathy, hypertrophic, 2 (115195); Left ventricular noncompaction 6 (601494); Cardiomyopathy, dilated, 1D (601494) for gene: TNNT2 Publications for gene TNNT2 were changed from to 27532257; 20186049; 28369730
gene: TNNT2 was added gene: TNNT2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Left ventricular noncompaction 6,; Hypertrophic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 2