Limb disorders
Gene: PIK3CA
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
Sarah Leigh: Associated with relevant pheno
Gene: pik3ca has been classified as Green List (High Evidence).
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
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)
Tag mosaicism tag was added to gene: PIK3CA. Tag somatic tag was added to gene: PIK3CA.
PIK3CA was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
PIK3CA was created by Ellen McDonagh