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Limb disorders

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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotypes in OMIM and as confirmed activating Gen2Phen gene for CLOVE syndrome, somatic 612918, Hemimegancephaly PIK3CA and Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501. Numerous somatic mosaic gain of function variants reported.
Created: 7 Nov 2018, 1:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Macrodactyly, somatic 155500; CLAPO syndrome, somatic 613089; CLOVE syndrome, somatic 612918; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macrodactyly, somatic 155500
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
  • CLOVE syndrome, somatic 612918
  • Polydactyly
  • CLAPO syndrome, somatic 613089
Tags
mosaicism somatic
OMIM
171834
Clinvar variants
Variants in PIK3CA
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

7 Nov 2018, Gel status: 4

Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

Mode of pathogenicity for gene: PIK3CA was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

7 Nov 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to PIK3CA. Mode of inheritance for gene PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Macrodactyly, somatic 155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501; CLOVE syndrome, somatic 612918; CLAPO syndrome, somatic 613089 for gene: PIK3CA Publications for gene PIK3CA were changed from to 23100325; 19353582; 29446767; 22729224; 19011570 Rating Changed from Red List (low evidence) to Green List (high evidence)

18 Oct 2018, Gel status: 1

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag mosaicism tag was added to gene: PIK3CA. Tag somatic tag was added to gene: PIK3CA.

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PIK3CA was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PIK3CA was created by Ellen McDonagh