Proteinuric renal disease
Gene: ARHGAP24
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
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Can't see evidence for this gene being on this panel.Created: 16 May 2016, 8:15 p.m.
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
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ARHGAP24 were changed from to Focal segmental glomerulosclerosis
Publications for gene: ARHGAP24 were set to
Source NHS GMS was added to ARHGAP24.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ARHGAP24 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
ARHGAP24 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing