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Severe Paediatric Disorders

Gene: APOL1

Amber List (moderate evidence)

APOL1 (apolipoprotein L1)
EnsemblGeneIds (GRCh38): ENSG00000100342
EnsemblGeneIds (GRCh37): ENSG00000100342
OMIM: 603743, Gene2Phenotype
APOL1 is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: APOL1; Recommended initial gene rating: I don't know; Phenotypes: {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3) | {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3); Mode of inheritance: ND | ND
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551
  • {End-stage renal disease, nondiabetic, susceptibility to}, 612551
OMIM
603743
Clinvar variants
Variants in APOL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene APOL1 were updated from to 30847515