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Segmental overgrowth disorders - Deep sequencing

Gene: PIK3R2

Green List (high evidence)
PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000105647
EnsemblGeneIds (GRCh37): ENSG00000105647
OMIM: 603157, Gene2Phenotype
PIK3R2 is in 12 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment 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.
Created: 15 Nov 2016, 4:59 p.m.

Panel version: 0.14

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

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

Created: 15 Nov 2016, 10:37 a.m.

Panel version: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
OMIM
603157
Clinvar variants
Variants in PIK3R2
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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 Nov 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

15 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

15 Nov 2016, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for PIK3R2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Nov 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

PIK3R2 was added to Regional overgrowth disorderspanel. Source: UKGTN

7 Nov 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

PIK3R2 was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory

7 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

PIK3R2 was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen

7 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PIK3R2 was created by rfoulger

7 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PIK3R2 was added to Regional overgrowth disorderspanel. Sources: Expert Review