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Epidermolysis bullosa and congenital skin fragility

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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa with pyloric atresia;Epidermolysis Bullosa with Pyloric Atresia;Epidermolysis bullosa, junctional, with pyloric stenosis, 226730;generalised intermediate junctional Epidermolysis bullosa
Created: 24 Mar 2021, 11:31 a.m. | Last Modified: 24 Mar 2021, 11:31 a.m.
Panel Version: 1.22
Created: 24 Mar 2021, 11:31 a.m.
Last Modified: 24 Mar 2021, 11:31 a.m.
Panel version: 1.22

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: Imported from Epidermolysis bullosa 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: Imported from Epidermolysis bullosa panel version 0.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730
OMIM
147556
Clinvar variants
Variants in ITGA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ITGA6 were changed from Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; generalised intermediate junctional Epidermolysis bullosa to Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ITGA6 was added gene: ITGA6 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA6 were set to 27186702; 9185503; 26739954; 26817667 Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; generalised intermediate junctional Epidermolysis bullosa