Early onset or syndromic epilepsy

Gene: GATAD2B

I don't know

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

Red List (low evidence)

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

Phenotypes
Mental retardation 18, 615074

Publications

• 23033978

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.

Red List (low evidence)

Publications

• Willemsen et al (2013) J Med Genet 50:507_514

Red List (low evidence)

Publications

• Willemsen et al (2013) J Med Genet 50:507_514

Red List (low evidence)

Publications

• Willemsen et al (2013) J Med Genet 50:507_514

Red List (low evidence)

Publications

• Willemsen et al (2013) J Med Genet 50:507 514

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.