Dilated Cardiomyopathy and conduction defects
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 Pugh (2014) Genet Med 16, 601.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
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Comment when marking as ready: On Manchester pan-cardiomyopathy diagnostic panel; evidence of AD and AR inheritance on OMIMCreated: 14 Feb 2016, 4:15 p.m.
Comment on list classification: On Manchester pan-cardiomyopathy diagnostic panelCreated: 14 Feb 2016, 4:15 p.m.
Comment on mode of inheritance: Evidence of AD and AR inheritance on OMIMCreated: 14 Feb 2016, 4:15 p.m.
Phenotypes for gene: DSP were changed from Dilated cardiomyopathy with woolly hair and keratoderma to Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD); Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
Source South West GLH was added to DSP.
Source London South GLH was added to DSP. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for DSP was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DSP was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
DSP was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
DSP was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list