Renal and urinary tract disorders
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: Imported from End-stage renal disease - childhood onset panel version 0.30

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

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

OMIM

602257

Clinvar variants

Variants in SCARB2

Penetrance

None

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SCARB2 was added gene: SCARB2 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure

Renal and urinary tract disorders Gene: SCARB2