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Mendeliome

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 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 affected individuals reported. Some variants are recurrent.
Created: 26 Apr 2022, 10:43 a.m. | Last Modified: 26 Apr 2022, 10:43 a.m.
Panel Version: 0.13364

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387
OMIM
603157
Clinvar variants
Variants in PIK3R2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Apr 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).

26 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIK3R2 were set to

26 Apr 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 Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIK3R2 was added gene: PIK3R2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIK3R2 was set to Unknown