Epidermolysis bullosaGene: DST
Comment on list classification: changed status from Red to Green due to expert reviewer suggestion and evidence in the literature (more commonly referenced in the literature as BP230 or bullous pemphigoid antigen 1, 230/240kDa)
Created: 21 Apr 2017, 12:34 p.m.
Comment on publications: added publications to support gene is involved in the disorder in 3 or more unrelated cases (note that the gene DST can be referred to in the literature as BP230, bullous pemphigoid antigen 1, 230/240kDa)
Created: 21 Apr 2017, 12:28 p.m.
Comment on phenotypes: reformatted and added suggestions from expert reviewer, also removed phenotypes not relevant to this panel (?Neuropathy, hereditary sensory and autonomic, type VI)
Created: 21 Apr 2017, 12:21 p.m.
AR (occ semi-dominant) - EB simplex
Created: 19 Nov 2015, 3:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa simplex
Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for DST were set to 20164846; 22113475; 27669234; 26719633; 25059916
This gene has been classified as Green List (High Evidence).
Publications for DST were set to 20164846;22113475;27669234; 26719633
Phenotypes for DST were set to Epidermolysis bullosa simplex, autosomal recessive 2, 615425;Epidermolysis bullosa simplex
Mode of inheritance for DST was changed to BIALLELIC, autosomal or pseudoautosomal
DST was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
DST was created by ellenmcdonagh
DST was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing