Limb disordersGene: PIK3R2
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 gain of function variants reported in 4 unrelated cases
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Sarah Leigh: Associated with relevant pheno
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
Source Expert Review Green was added to PIK3R2. Mode of inheritance for gene PIK3R2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 for gene: PIK3R2 Publications for gene PIK3R2 were changed from to 23745724; 22729224; 26520804 Rating Changed from Red List (low evidence) to Green List (high evidence)
PIK3R2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
PIK3R2 was created by Ellen McDonagh