Early onset or syndromic epilepsy
Gene: PIK3R2
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 1 (MPPH1). no of cases reported, some have seizures. Recurrent PIK3R2 variant reported by Riviere et al, 2012 amongst others - no mention of seizures in the Riviera paper as being a common feature. Mirzaa et al, 2015 also detected PIK3R2 variants - again can't see any mention of seizures in this paper. Terrone et al, 2016- patient had complex partial seizures and had a de novo PIK3R2 variant.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, 603387
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 activating gain of function variants reported in at least 8 cases.Created: 7 Nov 2018, 3:59 p.m.
Seizures are part of the phenotype.Created: 19 Aug 2018, 11:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM#603387
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PIK3R2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Source Wessex and West Midlands GLH was added to PIK3R2.
Source NHS GMS was added to PIK3R2.
Zornitza Stark: Seizures are part of the pheno
Mode of inheritance for gene: PIK3R2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: pik3r2 has been classified as Green List (High Evidence).
Mode of pathogenicity for gene: PIK3R2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: pik3r2 has been classified as Green List (High Evidence).
Publications for gene: PIK3R2 were set to
Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Expert Review Amber was added to PIK3R2. Panel: Genetic Epilepsy Syndromes
PIK3R2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
PIK3R2 was created by Sarah Leigh