Genetic epilepsy syndromesGene: GATAD2B
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: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AD mental retardation 18 - seizures not listed as a feature on OMIM
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mental retardation 18, 615074
Comment when marking as ready: Seizures do not appear to be a feature associated with variants in this gene.
Created: 16 Oct 2018, 3:51 p.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
Created: 12 Nov 2015, 4:03 p.m.
Source Wessex and West Midlands GLH was added to GATAD2B.
Source NHS GMS was added to GATAD2B.
Ellen McDonagh: Gene added in expert review of
Gene: gatad2b has been classified as Red List (Low Evidence).
GATAD2B was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Expert Review Red
GATAD2B was created by Sarah Leigh