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  2. Unexplained kidney failure in young people
  3. ITGA3
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Unexplained kidney failure in young people

Gene: ITGA3

Green List (high evidence)
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: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748
OMIM
605025
Clinvar variants
Variants in ITGA3
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

4 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748

4 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ITGA3 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

21 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748

21 Jun 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ITGA3 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ITGA3 was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ITGA3 was created by sleigh