Genetic epilepsy syndromes
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
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