Dilated Cardiomyopathy and conduction defects
Gene: DSPEnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 15 panels
4 reviews
Rebecca Whittington (South West GLH)
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
Ellen McDonagh (Genomics England Curator)
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.
Caroline Wright (Genomics England Curator)
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.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- London South GLH
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 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)
- OMIM
- 125647
- Clinvar variants
- Variants in DSP
- Penetrance
- Complete
- Panels with this gene
-
- Palmoplantar keratodermas
- Hereditary neuropathy
- Ectodermal dysplasia
- Dilated Cardiomyopathy and conduction defects
- Dilated and arrhythmogenic cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
- Paediatric or syndromic cardiomyopathy
- Epidermolysis bullosa and congenital skin fragility
- Hereditary neuropathy or pain disorder
- Ichthyosis and erythrokeratoderma
- Epidermolysis bullosa
- Ectodermal dysplasia without a known gene mutation
- DDG2P
- Arrhythmogenic right ventricular cardiomyopathy
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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)
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to DSP.
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to DSP. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for DSP was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)DSP was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)DSP was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)DSP was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list