Cardiomyopathies - including childhood onsetGene: TCAP
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red 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, hypertrophic, 25 OMIM#607487; Muscular dystrophy, limb-girdle, autosomal recessive 7 OMIM#601954
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 8 variants assoc with DCM, all but three are ?DM. Hirtle-Lewis Clin. Cardiol. 36, 10, 628633 (2013) found two clinically significant variants with DCM. Walsh 2017 - two DCM patients with same TCAP variants. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531. 6 HCM, only 2 DM reported 15582318. 1 of these has since been reclassified as LB. 28518168. OMIM: HCM appears to be adult onset
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
Comment on mode of inheritance: Changing to BOTH monoallelic and biallliec as is Green monoallelic on the source Dilated cardiomyopathy - teen and adult panel, and Amber bioallelic on the Congenital muscular dystrophy panel
Created: 22 Jan 2019, 1:44 p.m.
Source Expert Review Red was added to TCAP. Source NHS GMS was added to TCAP. Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: TCAP was added gene: TCAP was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCAP were set to 21530252; 23479141 Phenotypes for gene: TCAP were set to Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N