Limb disorders
Gene: PIK3CAEnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
1 review
Sarah Leigh (Genomics England Curator)
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
- 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
-
- Limb disorders
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- DDG2P
- Fetal anomalies
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Malformations of cortical development
- Familial Neural Tube Defects
- Hydrocephalus
- Segmental overgrowth disorders - Deep sequencing
- Childhood solid tumours
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Neurological segmental overgrowth
- Hereditary haemorrhagic telangiectasia
- Intellectual disability
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: Associated with relevant pheno
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: pik3ca has been classified as Green List (High Evidence).
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
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)
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.
Added New Source
Ellen McDonagh (Genomics England Curator)PIK3CA was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)PIK3CA was created by Ellen McDonagh