Proteinuria
Gene: ARHGDIA
ARHGDIA (Rho GDP dissociation inhibitor alpha)
EnsemblGeneIds (GRCh38): ENSG00000141522
EnsemblGeneIds (GRCh37): ENSG00000141522
OMIM: 601925, Gene2Phenotype
ARHGDIA is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000141522
EnsemblGeneIds (GRCh37): ENSG00000141522
OMIM: 601925, Gene2Phenotype
ARHGDIA is in 2 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 23867502
- K/O zebrafish model recapitulates the human phenotype
- Two Ash. Jewish siblings with a homozygous missense variant and early-onset steroid resistant nephrotic syndrome
- additional proband with a homozygous PTC with congenital Nephrotic syndrome
- overexpression of the identified missense/PTC abrogated interaction with endogenous RHOA, RAC1, and CDC42
PMID: 35060086 - infant with steroid resistant nephrotic syndrome and a homozygous missense variant, called LP. No functional.Created: 10 May 2022, 2:28 a.m. | Last Modified: 10 May 2022, 2:28 a.m.
Panel Version: 0.14003
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 8 MIM#615244
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 601925
- Clinvar variants
- Variants in ARHGDIA
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ARHGDIA was added gene: ARHGDIA was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARHGDIA was set to Unknown