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  3. SCARB2
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Proteinuric renal disease

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 7 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: SCARB2; Suggested initial gene rating: green; Evidence for inclusion: https://doi.org/10.1186/1471-2377-11-134;22032306; Other comments: Multiple reports of unrelated patients with nephrotic syndrome and epilepsy. One positive case in cohort of >600 SRNS referrals
Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

  • https://doi.org/10.1186/1471-2377-11-134
  • 22032306

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Feb 2019, 10:41 a.m.

Panel version: 1.16

Ellen Thomas (Genomics England Curator)

Comment on list classification: At least 4 families; epilepsy part of the phenotype.
Created: 27 May 2016, 12:48 p.m.
Created: 27 May 2016, 12:48 p.m.

Panel version: 0.140

Maggie Williams (North Bristol NHS Trust)

Green List (high evidence)

Currently on UK diagnostic panel, 1 positive case, over 300 tested
Listed in several reviews
Created: 19 Oct 2015, 3:16 p.m.

Phenotypes
Action myoclonus renal failure syndrome

Publications

  • Hopfner et al. BMC Neurology 2011, 11:134

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Oct 2015, 3:16 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Action myoclonus renal failure syndrome
  • Epilepsy, progressive myoclonic 4, with or without renal failure #254900
OMIM
602257
Clinvar variants
Variants in SCARB2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Jun 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

19 Jun 2019, Gel status: 4

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SCARB2 were set to

4 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SCARB2. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for SCARB2 was changed to BIALLELIC, autosomal or pseudoautosomal

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SCARB2 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing

18 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SCARB2 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing