Dilated Cardiomyopathy (DCM)
Gene: DSPEnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 15 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment when marking as ready: On Manchester pan-cardiomyopathy diagnostic panel; evidence of AD and AR inheritance on OMIMCreated: 11 Feb 2016, 2:29 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dilated cardiomyopathy with woolly hair and keratoderma
- OMIM
- 125647
- Clinvar variants
- Variants in DSP
- Penetrance
- Complete
- Panels with this gene
-
- Palmoplantar keratodermas
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Ectodermal dysplasia
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Epidermolysis bullosa and congenital skin fragility
- Epidermolysis bullosa
- Ectodermal dysplasia without a known gene mutation
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
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
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for DSP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DSP was added to Dilated Cardiomyopathy (DCM)panel. 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 (DCM)panel. 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 (DCM)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list