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  3. SCARB2
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Proteinuria

Gene: SCARB2

Green List (high evidence)
SCARB2 (scavenger receptor class B member 2)
EnsemblGeneIds (GRCh38): ENSG00000138760
EnsemblGeneIds (GRCh37): ENSG00000138760
OMIM: 602257, Gene2Phenotype
SCARB2 is in 9 panels

1 review

Samantha Ayres (Victorian Clinical Genetics Services)

Green List (high evidence)

Curated by ClinGen as 'Definitive' in 2020
Created: 28 Mar 2022, 1:33 a.m. | Last Modified: 28 Mar 2022, 1:33 a.m.
Panel Version: 0.12062

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900

Publications

Created: 28 Mar 2022, 1:33 a.m.
Last Modified: 28 Mar 2022, 1:33 a.m.
Panel version: Imported from Mendeliome panel version 0.12062

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive Myoclonus Epilepsy, MONDO:0020074
  • Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900
OMIM
602257
Clinvar variants
Variants in SCARB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: scarb2 has been classified as Green List (High Evidence).

25 Apr 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: SCARB2 were changed from to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900

25 Apr 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SCARB2 were set to

25 Apr 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: SCARB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCARB2 was added gene: SCARB2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCARB2 was set to Unknown