Proteinuric renal disease
Gene: ARHGAP24EnsemblGeneIds (GRCh38): ENSG00000138639
EnsemblGeneIds (GRCh37): ENSG00000138639
OMIM: 610586, Gene2Phenotype
ARHGAP24 is in 2 panels
3 reviews
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: ARHGAP24; Suggested initial gene rating: red; Evidence for inclusion: PMID21911940; Other comments: Variant reported to segregate in three individuals in one family, supported by in vitro studies (PMID: 21911940). Seen in gnomAD (2018) in >100 het, and once in the homozygous state in an apparently healthy individual <30 years. On diagnostic panel; no positive cases detected in >600 nephrotic syndrome referralsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Focal segmental glomerulosclerosis
Publications
- PMID21911940
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Can't see evidence for this gene being on this panel.Created: 16 May 2016, 8:15 p.m.
Maggie Williams (North Bristol NHS Trust)
Currently on UK diagnostic panel, but no positive cases over 300 testedCreated: 19 Oct 2015, 1:51 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
- J Clin Invest. 2011 Oct
- 121(10):4127-37
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Eligibility statement prior genetic testing
- Phenotypes
-
- Focal segmental glomerulosclerosis
- OMIM
- 610586
- Clinvar variants
- Variants in ARHGAP24
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ARHGAP24 were changed from to Focal segmental glomerulosclerosis
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: ARHGAP24 were set to
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ARHGAP24.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ARHGAP24 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)ARHGAP24 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing