Previous cardiomyopathies - including childhood onset
Gene: DSP
Arrhythmogenic right ventricular dysplasia 8 OMIM#607450; Cardiomyopathy, dilated, with woolly hair and keratoderma OMIM#605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis OMIM#615821; Epidermolysis bullosa, lethal acantholytic OMIM#609638; Keratosis palmoplantaris striata II OMIM#612908; Skin fragility-woolly hair syndrome OMIM#607655Created: 25 Mar 2019, 4:30 p.m.
HGMD: 52 variants assoc with DCM on HGMD. Many classed as ?DM (many from Walsh 2017). Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and no paediatric casess listed in Pugh (2014) Genet Med 16, 601. Paediatric cases reported in: Uzumcu J Med Genet. 2006 Feb;43(2):e5 (ARVC) and Boyden Hum Mol Genet. 2016 Jan 15;25(2):348-57 in erythrokeratodermia-cardiomyopathy syndrome.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source South West GLH was added to DSP.
Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Checked against the component panels and ready to promote to version 1.
Mode of inheritance for gene DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Arrhythmogenic right ventricular dysplasia 8 for gene: DSP
gene: DSP was added gene: DSP was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Dilated cardiomyopathy with woolly hair and keratoderma