Renal and urinary tract disorders
Gene: ITGA3

ITGA3 (integrin subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000005884
EnsemblGeneIds (GRCh37): ENSG00000005884
OMIM: 605025, Gene2Phenotype
ITGA3 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported
Created: 4 Aug 2016, 1:57 p.m.

Created: 17 Jun 2016, 8:41 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748

OMIM

605025

Clinvar variants

Variants in ITGA3

Penetrance

None

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ITGA3 were changed from Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ITGA3 was added gene: ITGA3 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital

Renal and urinary tract disorders Gene: ITGA3