Early onset or syndromic epilepsy

Gene: SCARB2

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

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

• 18308289
• 22032306

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.

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)