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  3. ITGA6
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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 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported.
Created: 13 Feb 2021, 12:24 a.m. | Last Modified: 13 Feb 2021, 12:24 a.m.
Panel Version: 0.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730

Publications

Created: 13 Feb 2021, 12:24 a.m.
Last Modified: 13 Feb 2021, 12:24 a.m.
Panel version: 0.64

Details

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

History Filter Activity

13 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itga6 has been classified as Green List (High Evidence).

13 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITGA6 were changed from to Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730

13 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITGA6 were set to

13 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ITGA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGA6 was added gene: ITGA6 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ITGA6 was set to Unknown