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  2. CAKUT
  3. ITGA8
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CAKUT

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

3 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Panel version: 0

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.

Panel version: 0.56

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.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal hypodysplasia/aplasia 1, 191830
OMIM
604063
Clinvar variants
Variants in ITGA8
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

30 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ITGA8 were set to Renal hypodysplasia/aplasia 1, 191830

30 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ITGA8 was changed to BIALLELIC, autosomal or pseudoautosomal

30 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA8 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,Expert list

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA8 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,Expert list