Renal and urinary tract disorders
Gene: ARHGDIA

ARHGDIA (Rho GDP dissociation inhibitor alpha)
EnsemblGeneIds (GRCh38): ENSG00000141522
EnsemblGeneIds (GRCh37): ENSG00000141522
OMIM: 601925, Gene2Phenotype
ARHGDIA is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported
Created: 4 Aug 2016, 10:20 a.m.

Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 9:01 a.m.

Comment on list classification: This gene is Green on Proteinuric renal disease gene panel
Created: 17 Jun 2016, 8:34 a.m.

Created: 17 Jun 2016, 8:34 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Nephrotic syndrome, type 8 615244

OMIM

601925

Clinvar variants

Variants in ARHGDIA

Penetrance

None

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ARHGDIA were changed from Nephrotic syndrome, type 8 to Nephrotic syndrome, type 8 615244

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ARHGDIA was added gene: ARHGDIA was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: ARHGDIA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARHGDIA were set to Nephrotic syndrome, type 8

Renal and urinary tract disorders Gene: ARHGDIA