Early onset or syndromic epilepsy

Gene: AKT3

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: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AD megalencephaly -polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) - overgrowth syndrome - on OMIM seizures have been reported in some patients - nonoe of the references in the clinical features section mention seizures in these patients. Alcantara et al, 2017 - Mosaic E17K variant) 2/3 had early onset intractable epilepsy - If these are tissue specific may not be able to detect in peripheral blood. Also detected constitutional AKT3 variants. They comment that seizures are a common feature in this cohort, especially those with the E17K mutation. 8/14 patients in their cohort had epilepsy.Somatic mutations may not be detected.

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
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 615937

Publications

• 21159799
• 22729224

Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)

Created: 16 Jul 2018, 3:57 p.m.

Green List (high evidence)

Enough evidence to mark as green, and the phenotype can be associated with epilepsy

Created: 4 Jul 2018, 9:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937