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Genetic epilepsy syndromes

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 10 panels

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR progressive myoclonic epilepsy type 4 with/without renal failure. 27 reported mutations on HGMD Pro, missense, nonsense, splicing and small dels/ins. Balreira et al, 2008 - Portugese girl with epilepsy syndrome and nephrotic syndrome - hom nonsense variant. Has aff sister - not tested. Velayeti et al, 2011 - sibs with Gaucher - one also had myoclonic seizures. mat inherited novel het missense variant identified in the brother with seizures - not seen in other brother or controls. Thought to be AR condition. Fu et al, 2014 - 2 Japanese patients with epilepsy without renal failure - novel hom fs and nonsense variants Immunostaining with an antibody reveleed decreased or no expression of the protein respectively. Dibbens et al - 5 unrelated Italian patients with progressive myoclonic epilepsy sue to SCRB2 variants - bit no renal failure.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Sarah Leigh (Genomics England Curator)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in 9 unrelated cases, supportive functional studies also provided (PMID 18424452)
Created: 12 Apr 2018, 8:20 a.m.

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure 254900
OMIM
602257
Clinvar variants
Variants in SCARB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SCARB2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SCARB2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to SCARB2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SCARB2 were set to 18308289; 21670406; 18424452; 29605618

12 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SCARB2 were set to 18308289; 21670406; 18424452

12 Apr 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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

12 Apr 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure 254900

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SCARB2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SCARB2 was created by Sarah Leigh