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Newborns main panel

Gene: PIK3CA

Amber List (moderate 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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Somatic mosaic
Created: 15 Jan 2025, 3:02 p.m. | Last Modified: 15 Jan 2025, 3:02 p.m.
Panel Version: 0.475
Created: 15 Jan 2025, 3:02 p.m.
Last Modified: 15 Jan 2025, 3:02 p.m.
Panel version: 0.475

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 33342467 - 14 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

15 Jan 2025, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: PIK3CA was changed from Other to Other

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes PIK3CA related overgrowth spectrum for gene: PIK3CA

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PIK3CA. Added phenotypes PIK3CA related overgrowth spectrum for gene: PIK3CA Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to PIK3CA. Mode of pathogenicity for gene PIK3CA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes PIK3CA related overgrowth spectrum for gene: PIK3CA Rating Changed from No List (delete) to Red List (low evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to PIK3CA. Rating Changed from Red List (low evidence) to No List (delete)

27 Mar 2023, Gel status: 1

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

Mafalda Gomes (Genomics England Curator)

gene: PIK3CA was added gene: PIK3CA was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: PIK3CA was set to Other Phenotypes for gene: PIK3CA were set to PIK3CA related overgrowth spectrum