APOL1 kidney donor testing
Gene: APOL1EnsemblGeneIds (GRCh38): ENSG00000100342
EnsemblGeneIds (GRCh37): ENSG00000100342
OMIM: 603743, Gene2Phenotype
APOL1 is in 5 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 12:16 p.m. | Last Modified: 26 Sep 2024, 12:16 p.m.
Panel Version: 0.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
APOL1 has been added to the panel for R446 APOL1 kidney donor testing with a green rating as agreed with the NHS Genomic Medicine Service.
Sources: NHS GMSCreated: 13 Aug 2024, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Glomerulosclerosis, focal segmental, 4, susceptibility to}, OMIM:612551
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- {Glomerulosclerosis, focal segmental, 4, susceptibility to}, OMIM:612551
- OMIM
- 603743
- Clinvar variants
- Variants in APOL1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to APOL1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: APOL1 was added gene: APOL1 was added to APOL1 kidney donor testing. Sources: NHS GMS Mode of inheritance for gene: APOL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOL1 were set to {Glomerulosclerosis, focal segmental, 4, susceptibility to}, OMIM:612551 Review for gene: APOL1 was set to GREEN