25 Mar 2024
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
06 Aug 2019
Early onset or syndromic epilepsy v1.191
PIK3R2
Rebecca Foulger Source Wessex and West Midlands GLH was added to PIK3R2.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PIK3R2
Rebecca Foulger Source NHS GMS was added to PIK3R2.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PIK3R2
Rebecca Foulger reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
08 Nov 2018
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
07 Nov 2018
Early onset or syndromic epilepsy v0.591
PIK3R2
Sarah Leigh Marked gene: PIK3R2 as ready
07 Nov 2018
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.
07 Nov 2018
Early onset or syndromic epilepsy v0.591
PIK3R2
Sarah Leigh Gene: pik3r2 has been classified as Green List (High Evidence).
07 Nov 2018
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
07 Nov 2018
Early onset or syndromic epilepsy v0.590
PIK3R2
Sarah Leigh Classified gene: PIK3R2 as Green List (high evidence)
07 Nov 2018
Early onset or syndromic epilepsy v0.590
PIK3R2
Sarah Leigh Gene: pik3r2 has been classified as Green List (High Evidence).
07 Nov 2018
Early onset or syndromic epilepsy v0.589
PIK3R2
Sarah Leigh Publications for gene: PIK3R2 were set to
07 Nov 2018
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
19 Aug 2018
Early onset or syndromic epilepsy
PIK3R2
Zornitza Stark reviewed gene: PIK3R2
25 Jun 2018
Early onset or syndromic epilepsy
PIK3R2
Sarah Leigh Added gene to panel