Epidermolysis bullosa and congenital skin fragility
Gene: DSTComment 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 simplexCreated: 19 Nov 2015, 3:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa simplex
Phenotypes for gene: DST were changed from Epidermolysis bullosa simplex; Epidermolysis bullosa simplex, autosomal recessive 2, 615425 to Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425
gene: DST was added gene: DST was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DST were set to 27669234; 26719633; 25059916; 22113475; 20164846 Phenotypes for gene: DST were set to Epidermolysis bullosa simplex; Epidermolysis bullosa simplex, autosomal recessive 2, 615425