Hydrops fetalis
Gene: PIK3CA
PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified.
Sources: Expert listCreated: 13 Aug 2020, 11:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Publications
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
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Overgrowth
- Polydactyly
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Hydrocephalus_Ventriculomegaly
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Skeletal dysplasia
- Fetal anomalies
- Mosaic skin disorders
- Mendeliome
- Polymicrogyria and Schizencephaly
- Cerebral vascular malformations
- Callosome
- Wilms Tumour
- Cerebral Palsy
History Filter Activity
13 Aug 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3ca 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: PIK3CA was added gene: PIK3CA was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3CA were set to 23754335 Phenotypes for gene: PIK3CA were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Review for gene: PIK3CA was set to RED