Ectodermal dysplasia
Gene: DSP
DSP (desmoplakin)
EnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.Created: 19 Nov 2015, 3:17 p.m.
John McGrath (King's College London)
Not really an EDCreated: 19 Nov 2015, 3:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ectodermal Dysplasia/Skin Fragility Syndrome
- OMIM
- 125647
- Clinvar variants
- Variants in DSP
- Penetrance
- None
- Panels with this gene
-
- Epidermolysis bullosa and congenital skin fragility
- Hereditary neuropathy or pain disorder
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- DDG2P
- Ichthyosis and erythrokeratoderma
- Hereditary neuropathy
- Palmoplantar keratodermas
- Palmoplantar keratoderma and erythrokeratodermas
- Dilated and arrhythmogenic cardiomyopathy
- Fetal anomalies
- Epidermolysis bullosa
- Ectodermal dysplasia without a known gene mutation
- Ectodermal dysplasia
- Paediatric or syndromic cardiomyopathy
History Filter Activity
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DSP was added gene: DSP was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Ectodermal Dysplasia/Skin Fragility Syndrome