Cardiomyopathies - including childhood onsetGene: TNNI3
Comment on mode of inheritance: MOI corrected.
Created: 3 Dec 2019, 9:57 a.m. | Last Modified: 3 Dec 2019, 9:57 a.m.
Panel Version: 0.45
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, 2A OMIM#611880; Cardiomyopathy, dilated, 1FF OMIM#613286; Cardiomyopathy, familial restrictive, 1 OMIM#115210; Cardiomyopathy, hypertrophic, 7 OMIM#613690
Created: 25 Mar 2019, 4:30 p.m.
Key cardiomyopathy gene. Mean age of onset in fourth decade but can also have very early onset as described by van den Wijngaard Neth Heart J (2011) 19:344351 in a number of paediatric cases with RCM and LVNC. Experience in the lab of paeditatric onset disease.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: TNNI3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source NHS GMS was added to TNNI3.
gene: TNNI3 was added gene: TNNI3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: TNNI3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNNI3 were set to Hypertrophic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, dilated, 1FF; Cardiomyopathy, dilated, 2A,