Early onset or syndromic epilepsy
Gene: RARS2
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
AD susceptibility to acute infection induced encephalopathy 3 (IIAE3). Molecular genetics on OMIM - Neilson et al 2009 - suggest that mutations in RANBP2 gene predispose to acute necrotising encephalopathy following febrile illness - but by themselves are insufficient to make the phenotype fully penetrant and additional genetic and environmental factors are required. In addition 4 more affected famiies did not carry RANBP2 mutationsCreated: 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
Pontocerebellar hypoplasia, 611523
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 4 unrelated cases, in which seizures are a phenotypic feature.Created: 26 Nov 2018, 4:23 p.m.
Seizures are part of the phenotype of this brain development disorder.Created: 20 Aug 2018, 10:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 6, MIM#611523
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to RARS2.
Source NHS GMS was added to RARS2.
Zornitza Stark: Seizures are part of the pheno
Mode of inheritance for gene: RARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: rars2 has been classified as Green List (High Evidence).
Gene: rars2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, 611523
Publications for gene: RARS2 were set to
Expert Review Amber was added to RARS2. Panel: Genetic Epilepsy Syndromes
RARS2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
RARS2 was created by Sarah Leigh