Epidermolysis bullosa
Gene: ITGA6

ITGA6 (integrin subunit alpha 6)
EnsemblGeneIds (GRCh38): ENSG00000091409
EnsemblGeneIds (GRCh37): ENSG00000091409
OMIM: 147556, Gene2Phenotype
ITGA6 is in 6 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa with pyloric atresia; generalised intermediate junctional Epidermolysis bullosa

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status from Amber to Green due to expert review and evidence in recent publications (OMIM entry last updated 2013)
Created: 19 Apr 2017, 3:17 p.m.

Comment on publications: Added publications to support number of cases to date (more than three) with Epidermolysis bullosa junctionalis with pyloric atresia caused by variants of ITGA6
Created: 19 Apr 2017, 3:13 p.m.

Comment on phenotypes: amended format issue and added phenotypes suggested by reviewer
Created: 19 Apr 2017, 2:26 p.m.

Created: 19 Apr 2017, 2:26 p.m.

Panel version: 0.14

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

Epidermolysis bullosa, junctional, with pyloric stenosis, 226730
Epidermolysis Bullosa with Pyloric Atresia
Epidermolysis bullosa with pyloric atresia
generalised intermediate junctional Epidermolysis bullosa

OMIM

147556

Clinvar variants

Variants in ITGA6

Penetrance

Complete

Publications

Panels with this gene