Epidermolysis bullosa
Gene: DSPEnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 15 panels
2 reviews
John McGrath (King's College London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe generalised Epidermolysis bullosa simplex
Louise Daugherty (Genomics England Curator)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Epidermolysis bullosa, lethal acantholytic, OMIM:609638
- Skin fragility-woolly hair syndrome, OMIM:607655
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Lethal acantholytic epidermolysis bullosa; Skin fragility-woolly hair syndrome,607655 to Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DSP were set to Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Lethal acantholytic epidermolysis bullosa;Skin fragility-woolly hair syndrome,607655
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DSP were set to Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Lethal acantholytic epidermolysis bullosa
Added New Source
Ellen McDonagh (Genomics England Curator)DSP was added to Epidermolysis bullosapanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)DSP was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene DSP was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)DSP was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)DSP was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)DSP was created by ellenmcdonagh