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  3. PIK3CA
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Cancer Predisposition_Paediatric

Gene: PIK3CA

Green List (high evidence)
PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

MCAP syndrome is associated with increased risk of Wilm's tumour, and other neoplasms (leukaemia, meningioma).
Sources: Expert Review
Created: 25 Jul 2022, 1:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM# 602501

Created: 25 Jul 2022, 1:33 a.m.

Panel version: 0.119

History Filter Activity

25 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3ca has been classified as Green List (High Evidence).

25 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3ca has been classified as Green List (High Evidence).

25 Jul 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIK3CA was added gene: PIK3CA was added to Cancer Predisposition_Paediatric. Sources: Expert Review somatic tags were added to gene: PIK3CA. Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM# 602501 Review for gene: PIK3CA was set to GREEN