Segmental overgrowth disorders - Deep sequencing
Gene: PIK3R2Comment when marking as ready: PIK3R2 rated as green based on expert review and is a confirmed DD gene for MPPH1 disorder.Created: 15 Nov 2016, 4:59 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387; MPPH1; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1
Phenotypes for gene: PIK3R2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387; MPPH1; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PIK3R2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PIK3R2 was added to Regional overgrowth disorderspanel. Source: UKGTN
PIK3R2 was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory
PIK3R2 was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen
PIK3R2 was created by rfoulger
PIK3R2 was added to Regional overgrowth disorderspanel. Sources: Expert Review