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Proteinuric renal disease v2.72 APOL1 Eleanor Williams Mode of pathogenicity for gene: APOL1 was changed from to Other
Proteinuric renal disease v2.71 APOL1 Eleanor Williams Tag for-review was removed from gene: APOL1.
Proteinuric renal disease v2.66 APOL1 Eleanor Williams commented on gene: APOL1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Proteinuric renal disease v2.49 APOL1 Eleanor Williams Publications for gene: APOL1 were set to 20647424; 23766536
Proteinuric renal disease v2.48 APOL1 Eleanor Williams edited their review of gene: APOL1: Added comment: 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.; Changed publications: 33517446
Proteinuric renal disease v2.48 APOL1 Eleanor Williams Classified gene: APOL1 as Amber List (moderate evidence)
Proteinuric renal disease v2.48 APOL1 Eleanor Williams Added comment: 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.
Proteinuric renal disease v2.48 APOL1 Eleanor Williams Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v2.47 APOL1 Eleanor Williams 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
Proteinuric renal disease v2.46 APOL1 Eleanor Williams Mode of inheritance for gene: APOL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v2.45 APOL1 Eleanor Williams Publications for gene: APOL1 were set to 20647424
Proteinuric renal disease v2.44 APOL1 Eleanor Williams Tag for-review tag was added to gene: APOL1.
Proteinuric renal disease v2.44 APOL1 Natalie Forrester reviewed gene: APOL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23766536; Phenotypes: chronic kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.137 APOL1 Eleanor Williams Phenotypes for gene: APOL1 were changed from to Focal Segmental Glomerulosclerosis 4, Susceptibility to #612551
Proteinuric renal disease v1.136 APOL1 Eleanor Williams Publications for gene: APOL1 were set to
Proteinuric renal disease v1.16 APOL1 Eleanor Williams reviewed gene: APOL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Focal Segmental Glomerulosclerosis 4, Susceptibility to #612551; Mode of inheritance: Unknown
Proteinuric renal disease v1.15 APOL1 Eleanor Williams Source NHS GMS was added to APOL1.