Genetic epilepsy syndromesGene: SCARB2
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
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
Epilepsy, progressive myoclonic 4, with or without renal failure,254900
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.
Source Wessex and West Midlands GLH was added to SCARB2.
Source NHS GMS was added to SCARB2.
Sarah Leigh: Gene originally listed on the
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to SCARB2. Panel: Genetic Epilepsy Syndromes
Publications for gene: SCARB2 were set to 18308289; 21670406; 18424452; 29605618
This gene has been classified as Green List (High Evidence).
Publications for SCARB2 were set to 18308289; 21670406; 18424452
Mode of inheritance for SCARB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure 254900
SCARB2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
SCARB2 was created by Sarah Leigh