Early onset or syndromic epilepsy
Gene: RAB3GAP2
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: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Insufficient evidence, phenotype appears to be associated with Warburg micro syndrome (where seizures can occasionally occur).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
Martsolf syndrome, 212720 ; Warburg micro syndrome 2, 614225
Publications
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 1:33 p.m.
Seizures are an occasional feature of this neurodevelopmental syndrome.Created: 20 Aug 2018, 10:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: RAB3GAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were changed from to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Source Wessex and West Midlands GLH was added to RAB3GAP2.
Source NHS GMS was added to RAB3GAP2.
Zornitza Stark: Seizures are an occasional fea
Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to RAB3GAP2. Panel: Genetic Epilepsy Syndromes
RAB3GAP2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
RAB3GAP2 was created by Sarah Leigh