Ectodermal dysplasia without a known gene mutation
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
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Ectodermal Dysplasia/Skin Fragility Syndrome
- OMIM
- 125647
- Clinvar variants
- Variants in DSP
- Penetrance
- Complete
- Panels with this gene
-
- Epidermolysis bullosa and congenital skin fragility
- 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
- Hereditary neuropathy or pain disorder
- Epidermolysis bullosa
- Ectodermal dysplasia without a known gene mutation
- Ectodermal dysplasia
- Paediatric or syndromic cardiomyopathy
History Filter Activity
10 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 10th August 2016
25 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DSP was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Illumina TruGenome Clinical Sequencing Services