Epidermolysis bullosa
Gene: DST

DST (dystonin)
EnsemblGeneIds (GRCh38): ENSG00000151914
EnsemblGeneIds (GRCh37): ENSG00000151914
OMIM: 113810, Gene2Phenotype
DST is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

Created: 21 Apr 2017, 12:21 p.m.

Panel version: 0.44

John McGrath (King's College London)

Green List (high evidence)

AR (occ semi-dominant) - EB simplex
Created: 19 Nov 2015, 3:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa simplex

Created: 19 Nov 2015, 3:43 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

Epidermolysis bullosa simplex, autosomal recessive 2, 615425
Epidermolysis bullosa simplex

OMIM

113810

Clinvar variants

Variants in DST

Penetrance

Complete

Publications

Panels with this gene