Proteinuric renal disease
Gene: APOL1
This gene has been submitted for consideration for a new clinical indication in order to genotype patients with recent African ancestry who are being assessed for suitability to be a living kidney donor. A British Transplantation Society (BTS) group is also working in parallel to develop clinical and ethical guidance to support this clinical pathway for living kidney donors. Well defined high-risk alleles have been reported in the literature to confer a significantly increased risk of developing chronic kidney disease. Therefore there is a clinical drive to include this gene on the R159 proteinuric renal disease panel in order to provide additional genotypic information for patients with African ancestry, whose clinical course may be affected by the presence of these high-risk alleles.Created: 29 Jan 2021, 5:53 p.m. | Last Modified: 29 Jan 2021, 5:53 p.m.
Panel Version: 2.44
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
chronic kidney disease
Publications
Mode of pathogenicity
Other
After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.Created: 7 Mar 2022, 11:37 p.m. | Last Modified: 7 Mar 2022, 11:37 p.m.
Panel Version: 2.66
PMID: 33517446 - Ge et al 2021 - demonstrate a mouse model to study APOL1 risk variants associated susceptibility to NFAT-mediated FSGS. They provide evidence that APOL1 G1 induced glomerular lipid accumulation correlates with loss of renal function and confirm that APOL1 G1/G2 risk variant is associated with mitochondrial dysfunction.Created: 4 May 2021, 2:58 p.m. | Last Modified: 4 May 2021, 2:58 p.m.
Panel Version: 2.48
Comment on list classification: Changing the rating from red to amber, following review and proposal for green by Natalie Forrester. It should be considered for green rating following GMS review.Created: 2 Feb 2021, 11:31 a.m. | Last Modified: 2 Feb 2021, 11:31 a.m.
Panel Version: 2.48
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: APOL1; Suggested initial gene rating: amber; Evidence for inclusion: none provided; Other comments: Polymorphisms common in African population associated with susceptibility to renal disease. In 70 gene SRNS panel. Local agreement not to report variants in this gene pending national review of clinical utility of testing in this gene.Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
Unknown
Phenotypes
Focal Segmental Glomerulosclerosis 4, Susceptibility to #612551
Publications
Currently on UK diagnostic panel. Increased susceptibility to FSGS. No positive cases over 300 testedCreated: 19 Oct 2015, 1:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Common variants in ApoL1 found in people with recent African ancestry confer innate defence against trypanosomiasis. The same alleles are associated with ~10-fold increased risk of proteinuric renal disease and kidney failure. Rare variants in this gene have not been linked to kidney disease.Created: 7 Oct 2015, 10:33 a.m.
Mode of inheritance
Other
Phenotypes
FSGS; proteinuria; renal failure
Publications
Mode of pathogenicity
Other
Mode of pathogenicity for gene: APOL1 was changed from to Other
Tag for-review was removed from gene: APOL1.
Publications for gene: APOL1 were set to 20647424; 23766536
Gene: apol1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: APOL1 were changed from Focal Segmental Glomerulosclerosis 4, Susceptibility to #612551 to {Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551; {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551
Mode of inheritance for gene: APOL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APOL1 were set to 20647424
Tag for-review tag was added to gene: APOL1.
Phenotypes for gene: APOL1 were changed from to Focal Segmental Glomerulosclerosis 4, Susceptibility to #612551
Publications for gene: APOL1 were set to
Source NHS GMS was added to APOL1.
This gene has been classified as Red List (Low Evidence).
APOL1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
APOL1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing