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Fetal anomalies
Gene: PIK3R2

PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000105647
EnsemblGeneIds (GRCh37): ENSG00000105647
OMIM: 603157, Gene2Phenotype
PIK3R2 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ID is part of the phenotype, often profound.
Created: 11 Apr 2021, 8:45 a.m. | Last Modified: 11 Apr 2021, 8:45 a.m.

Panel Version: 0.3626

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387

Publications

Created: 11 Apr 2021, 8:45 a.m.
Last Modified: 11 Apr 2021, 8:45 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3626

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387

OMIM

Clinvar variants

Variants in PIK3R2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3r2 has been classified as Green List (High Evidence).

2 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIK3R2 were set to 28425981

2 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PIK3R2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIK3R2 was added gene: PIK3R2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3R2 were set to 28425981 Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1