Clefting
Gene: PIK3R2

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

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Mutations in PIK3R2 are linked to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and sub mucosal cleft palate phenotype is cited to be rare. No literature papers found thus far linking orofacial clefting with PIK3R2 variants
Created: 31 May 2017, 3:30 p.m.

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

Phenotypes
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1

Created: 31 May 2017, 3:30 p.m.

Panel version: 0.328

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

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: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PIK3R2 was added to Cleftingpanel. Sources: Expert Review Red

31 May 2017, Gel status: 0

Created