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Unexplained paediatric onset end-stage renal disease

Gene: ITGA3

Green List (high evidence)

ITGA3 (integrin subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000005884
EnsemblGeneIds (GRCh37): ENSG00000005884
OMIM: 605025, Gene2Phenotype
ITGA3 is in 10 panels

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
Created: 9 Apr 2019, 11:17 a.m.

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.

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

9 Apr 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ITGA3 was added gene: ITGA3 was added to Unexplained paediatric onset end-stage renal disease. 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 614748