Early onset or syndromic epilepsy
Gene: RAB18
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 Warburg micro syndrome type 3 - microcephaly, microcornea, congenital cataracts, optic atrophy, cortical dysplasia. Bem et al 2011 - 5 large consang kindreds segregating Warburg Micro syndrome incl 4 Pakistani families orig described by Ainsworth et al, 2001 and 1 Turkish family - hom LOF RAB18 mutations. All familiys had some level of epilepsy (children in families 1-5 have generalised tonic-clonic seizures. family 6 - 2 aff children have severe intractable epilepsy with myoclonic seizures from an early age), some functinal work done. Handley et al, 2013 - egyptian girl - myoclonic seizures - hom missense variant.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
Warburg micro syndrome, 614222
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported 3 unrelated cases, each of the variants was associated with at least one case in which seizures are a phenotypic feature.Created: 26 Nov 2018, 3:47 p.m.
Seizures are part of the phenotype of this developmental disorder.Created: 20 Aug 2018, 8:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 3, MIM#614222
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to RAB18.
Source NHS GMS was added to RAB18.
Zornitza Stark: Seizures are part of the pheno
Gene: rab18 has been classified as Green List (High Evidence).
Publications for gene: RAB18 were set to 15216543
Mode of inheritance for gene: RAB18 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: rab18 has been classified as Green List (High Evidence).
Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, 614222
Publications for gene: RAB18 were set to
Expert Review Amber was added to RAB18. Panel: Genetic Epilepsy Syndromes
RAB18 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
RAB18 was created by Sarah Leigh