Epidermolysis bullosa
Gene: DSP
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe generalised Epidermolysis bullosa simplex
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 reviews were assessed, and panel was revised according to reviews and further curation.
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
Phenotypes for DSP were set to Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Lethal acantholytic epidermolysis bullosa
DSP was added to Epidermolysis bullosapanel. Source: UKGTN
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
DSP was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
DSP was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing
DSP was created by ellenmcdonagh