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Prepair 1000+

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

2 reviews

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder).
Created: 13 Mar 2025, 3:18 a.m. | Last Modified: 13 Mar 2025, 3:18 a.m.
Panel Version: 1.1577

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817)

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Different variants reported in at least 4 probands. Phenotype meets criteria for inclusion
Created: 14 Jul 2022, 11:26 p.m. | Last Modified: 14 Jul 2022, 11:26 p.m.
Panel Version: 0.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
OMIM
147556
Clinvar variants
Variants in ITGA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes, Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) for gene: ITGA6 Publications for gene ITGA6 were updated from 31502654; 27607025; 9158140; 34525201; 20301336 to 9158140; 20301336; 27607025; 34525201; 31502654

15 Jul 2022, 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).

15 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITGA6 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGA6 was added gene: ITGA6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)