Renal and urinary tract disorders
Gene: ITGA8EnsemblGeneIds (GRCh38): ENSG00000077943
EnsemblGeneIds (GRCh37): ENSG00000077943
OMIM: 604063, Gene2Phenotype
ITGA8 is in 7 panels
4 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 4 Aug 2016, 1:59 p.m.
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.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Renal hypodysplasia/aplasia 1, 191830
- OMIM
- 604063
- Clinvar variants
- Variants in ITGA8
- Penetrance
- None
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ITGA8 was added gene: ITGA8 was added to Renal and urinary tract disorders. 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