Early onset or syndromic epilepsy
Gene: AKT3
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
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
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.
Enough evidence to mark as green, and the phenotype can be associated with epilepsyCreated: 4 Jul 2018, 9:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Publications for gene: AKT3 were set to
Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Source Wessex and West Midlands GLH was added to AKT3.
Source NHS GMS was added to AKT3.
Arianna Tucci: Enough evidence to mark as gre
Gene: akt3 has been classified as Green List (High Evidence).
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Mode of inheritance for gene: AKT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: akt3 has been classified as Green List (High Evidence).
Gene: akt3 has been classified as Green List (High Evidence).
Expert Review Amber was added to AKT3. Panel: Genetic Epilepsy Syndromes
AKT3 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
AKT3 was created by Sarah Leigh