Epidermolysis bullosa

Gene: ITGA6

Green List (high evidence)

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

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.

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

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.

19 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).

19 Apr 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ITGA6 were set to 9185503; 27186702; 26739954;26817667

19 Apr 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ITGA6 were set to 9185503; 27186702; 26739954

19 Apr 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; Epidermolysis Bullosa with Pyloric Atresia;Epidermolysis bullosa with pyloric atresia; generalised intermediate junctional Epidermolysis bullosa

28 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA6 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA6 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ITGA6 was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA6 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing