Epidermolysis bullosa

Gene: DST

Green List (high evidence)

DST (dystonin)
EnsemblGeneIds (GRCh38): ENSG00000151914
EnsemblGeneIds (GRCh37): ENSG00000151914
OMIM: 113810, Gene2Phenotype
DST is in 6 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.

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

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

History Filter Activity

25 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

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

21 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DST were set to 20164846; 22113475; 27669234; 26719633; 25059916

21 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Apr 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DST were set to 20164846;22113475;27669234; 26719633

21 Apr 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for DST were set to Epidermolysis bullosa simplex, autosomal recessive 2, 615425;Epidermolysis bullosa simplex

21 Apr 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for DST was changed to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DST was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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