Unexplained kidney failure in young people
Gene: SCARB2

SCARB2 (scavenger receptor class B member 2)
EnsemblGeneIds (GRCh38): ENSG00000138760
EnsemblGeneIds (GRCh37): ENSG00000138760
OMIM: 602257, Gene2Phenotype
SCARB2 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported in Epilepsy, progressive myoclonic 4, with renal failure 254900
Created: 5 Aug 2016, 10:25 a.m.

Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 9:27 a.m.

Created: 17 Jun 2016, 9:27 a.m.

Panel version: 0.30

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
UKGTN
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

Epilepsy, progressive myoclonic 4, with or without renal failure 254900

OMIM

602257

Clinvar variants

Variants in SCARB2

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SCARB2 were changed from Epilepsy, progressive myoclonic 4, with or without renal failure 254900 to Epilepsy, progressive myoclonic 4, with or without renal failure 254900

17 Aug 2016, Gel status: 4