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Fetal anomalies

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 4 probands reported

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: 15 Nov 2021, 4:57 a.m. | Last Modified: 15 Nov 2021, 4:59 a.m.
Panel Version: 0.448

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
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

15 Nov 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).

15 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITGA6 were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA6 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730