Defects of intrinsic and innate immunity
Gene: APOL1

APOL1 (apolipoprotein L1)
EnsemblGeneIds (GRCh38): ENSG00000100342
EnsemblGeneIds (GRCh37): ENSG00000100342
OMIM: 603743, Gene2Phenotype
APOL1 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Included on the IUIS inborn errors of immunity
Created: 9 Nov 2024, 7:27 a.m. | Last Modified: 9 Nov 2024, 7:27 a.m.

Panel Version: 0.140

Created: 9 Nov 2024, 7:27 a.m.
Last Modified: 9 Nov 2024, 7:27 a.m.
Panel version: 0.140

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Polymorphisms enriched in the African population are associated with increased protection from trypanosomiasis but also elevated risk of FSGS. Not a monogenic disorder as such.
Created: 9 Apr 2020, 12:53 a.m. | Last Modified: 9 Apr 2020, 12:53 a.m.

Panel Version: 0.18

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551

Publications

29470556

Created: 9 Apr 2020, 12:53 a.m.
Last Modified: 9 Apr 2020, 12:53 a.m.
Panel version: 0.18

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

{Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551

OMIM

603743

Clinvar variants

Variants in APOL1

Penetrance

None

Panels with this gene

History Filter Activity

9 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: apol1 has been classified as Red List (Low Evidence).

9 Apr 2020, Gel status: 1