Epidermolysis bullosa

Gene: DSP

Green List (high evidence)

DSP (desmoplakin)
EnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 13 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

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, 609638
  • Severe generalised Epidermolysis bullosa simplex
  • Lethal acantholytic epidermolysis bullosa
  • Skin fragility-woolly hair syndrome,607655
OMIM
125647
Clinvar variants
Variants in DSP
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Apr 2017, Gel status: 3

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

24 Apr 2017, Gel status: 3

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

21 Apr 2017, Gel status: 3

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

28 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DSP was added to Epidermolysis bullosapanel. Source: UKGTN

28 Oct 2015, Gel status: 2

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

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DSP was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DSP was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DSP was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing