Sudden cardiac death - previous panel
Gene: TNNI3
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. 131 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 7 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, familial restrictive, 1 (115210); Cardiomyopathy, hypertrophic, 7 (613690)
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: TNNI3 was added gene: TNNI3 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TNNI3 were set to 27532257; 28369730; 20186049 Phenotypes for gene: TNNI3 were set to Cardiomyopathy, familial hypertrophic, 7; Hypertrophic cardiomyopathy; ?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, dilated, 1FF; Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, dilated, 2A,; Cardiomyopathy, familial restrictive, 1 (115210); Cardiomyopathy, hypertrophic, 7 (613690)