Cardiomyopathies - including childhood onsetGene: TTN
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, 1G OMIM#604145; Cardiomyopathy, familial hypertrophic, 9 OMIM#613765; Muscular dystrophy, limb-girdle, autosomal recessive 10 OMIM#608807; Myopathy, proximal, with early respiratory muscle involvement#603689; Salih myopathy OMIM#611705; Tibial muscular dystrophy, tardive OMIM#600334
Created: 25 Mar 2019, 4:30 p.m.
Key cardiomyopathy gene and more phenotypes being investigated. Little evidence regarding variants in paediatric cardiomyopathy but main cardiac transcripts are present before birth. Some evidence in lab that variants in TTN can be assoc with paediatric cardiomyopathy. Pugh (2014) Genet Med 16, 601: 10% of paediatric cases had a likely pathogenic variant and 5% had a variant 'favouring pathogenic' in the TTN gene.
Created: 25 Mar 2019, 4:27 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to TTN.
gene: TTN was added gene: TTN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739 Phenotypes for gene: TTN were set to Cardiomyopathy, familial hypertrophic, 9,; Cardiomyopathy, dilated, 1G