Previous cardiomyopathies - including childhood onset
Gene: TCAP
Cardiomyopathy, hypertrophic, 25 OMIM#607487; Muscular dystrophy, limb-girdle, autosomal recessive 7 OMIM#601954Created: 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 onsetCreated: 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 panelCreated: 22 Jan 2019, 1:44 p.m.
Source South West GLH was added to TCAP. Mode of inheritance for gene TCAP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Eleanor Williams: Comment on mode of inheritance
Mode of inheritance for gene: TCAP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Congenital muscular dystrophies for gene: TCAP Publications for gene TCAP were changed from to 23479141; 21530252
gene: TCAP was added gene: TCAP was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: TCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TCAP were set to Cardiomyopathy, dilated, 1N