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

Gene: ARHGDIA

Green List (high evidence)
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: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 8 615244
OMIM
601925
Clinvar variants
Variants in ARHGDIA
Penetrance
Complete
Panels with this gene

History Filter Activity

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

Upload gene information

Sarah Leigh (Genomics England Curator)

ARHGDIA was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory

20 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ARHGDIA were set to Nephrotic syndrome, type 8 615244

20 Jun 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ARHGDIA 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)

ARHGDIA 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)

ARHGDIA was created by sleigh