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  2. Hydrops fetalis
  3. PIK3R2
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Hydrops fetalis

Gene: PIK3R2

Red List (low 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)

Red List (low evidence)

Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified.
Sources: Expert list
Created: 13 Aug 2020, 11:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937

Publications

Created: 13 Aug 2020, 11:06 p.m.

Panel version: 0.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
OMIM
603157
Clinvar variants
Variants in PIK3R2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3r2 has been classified as Red List (Low Evidence).

13 Aug 2020, Gel status: 1

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 Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3R2 were set to 23754335 Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Review for gene: PIK3R2 was set to RED