Hydrocephalus
Gene: PIK3R2

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.

Panel Version: 1.34

Created: 29 Jul 2019, 2:49 p.m.
Last Modified: 29 Jul 2019, 2:49 p.m.
Panel version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient cases and appropriate phenotype. Mutational spectrum limited to date (two missense reported, one recurrent++). See comment for details.
Created: 4 May 2017, 10:05 a.m.

Comment on mode of pathogenicity: Recurrent mutation identified 1117G-A , resulting in a gly373-to-arg (G373R) de novo in all studied with evidence of germline mosaicisim (three affected sibs). Other reported mutation to date is c.1202T-C , resulting in a leu401-to-pro (L401P) substitution in the SH2 domain. Therefore only missense reported to date.
Created: 4 May 2017, 10:05 a.m.

In excess of 10 patients with mutations in PIK3R2 with MPPH syndrome. Recurrent mutation identified 1117G-A , resulting in a gly373-to-arg (G373R) de novo in all studied with evidence of germline mosaicisim (three affected sibs). Other reported mutation to date is c.1202T-C , resulting in a leu401-to-pro (L401P) substitution in the SH2 domain.
Created: 4 May 2017, 10:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387

Publications

Created: 4 May 2017, 10:02 a.m.

Panel version: 0.47

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387

OMIM

603157

Clinvar variants

Variants in PIK3R2

Penetrance

Complete

Publications

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PIK3R2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PIK3R2.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

4 May 2017, Gel status: 4