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Early onset or syndromic epilepsy v4.182 PIK3R2 Arina Puzriakova Phenotypes for gene: PIK3R2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Early onset or syndromic epilepsy v1.191 PIK3R2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PIK3R2.
Early onset or syndromic epilepsy v1.190 PIK3R2 Rebecca Foulger Source NHS GMS was added to PIK3R2.
Early onset or syndromic epilepsy v1.189 PIK3R2 Rebecca Foulger reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PIK3R2 Tracy Lester reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26860062; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.669 PIK3R2 Sarah Leigh Mode of inheritance for gene: PIK3R2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh Marked gene: PIK3R2 as ready
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh Added comment: 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.
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh Gene: pik3r2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh 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
Early onset or syndromic epilepsy v0.590 PIK3R2 Sarah Leigh Classified gene: PIK3R2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.590 PIK3R2 Sarah Leigh Gene: pik3r2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.589 PIK3R2 Sarah Leigh Publications for gene: PIK3R2 were set to
Early onset or syndromic epilepsy v0.588 PIK3R2 Sarah Leigh Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Early onset or syndromic epilepsy PIK3R2 Zornitza Stark reviewed gene: PIK3R2
Early onset or syndromic epilepsy PIK3R2 Sarah Leigh Added gene to panel