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  3. ITGA8
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Unexplained young onset end-stage renal disease - additional genes

Gene: ITGA8

Green List (high evidence)
ITGA8 (integrin subunit alpha 8)
EnsemblGeneIds (GRCh38): ENSG00000077943
EnsemblGeneIds (GRCh37): ENSG00000077943
OMIM: 604063, Gene2Phenotype
ITGA8 is in 7 panels

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

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.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:37 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 4 Aug 2016, 1:59 p.m.
Created: 4 Aug 2016, 1:59 p.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to agreement from 2 reviewers.
Created: 30 Mar 2016, 9:20 a.m.
Created: 30 Mar 2016, 9:20 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 22 Feb 2016, 10:54 p.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal hypodysplasia/aplasia 1, OMIM:191830
OMIM
604063
Clinvar variants
Variants in ITGA8
Penetrance
None
Panels with this gene

History Filter Activity

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ITGA8 were changed from Renal hypodysplasia/aplasia 1, 191830 to Renal hypodysplasia/aplasia 1, OMIM:191830

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8

25 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ITGA8 was added gene: ITGA8 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, 191830