Genes in panel
STRs in panel
Prev Next

Paediatric or syndromic cardiomyopathy

Gene: DSP

Green List (high evidence)

DSP (desmoplakin)
EnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 16 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Rebecca Whittington (South West GLH)

Green List (high evidence)

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#607655
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR)
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
OMIM
125647
Clinvar variants
Variants in DSP
Penetrance
None
Panels with this gene

History Filter Activity

10 Oct 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DSP were changed from Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 to Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD); Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DSP.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: DSP was added gene: DSP was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH 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; Arrhythmogenic right ventricular dysplasia 8