Vascular Malformations_Somatic
Gene: PIK3CAEnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Somatic activating mutaitons are the main cause of vascular malformations, though note four individuals with germline variants have been reported, hence gene is on both somatic and germline panels.
Sources: Expert listCreated: 1 Jul 2020, 11:07 p.m.
Mode of inheritance
Other
Phenotypes
Megalencephaly-capillary malformation (MCAP) syndrome; Cowden syndrome 5 615108
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
- Other
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Megalencephaly-capillary malformation (MCAP) syndrome
- Cowden syndrome 5 615108
- 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
-
- Overgrowth
- Polydactyly
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Hydrocephalus_Ventriculomegaly
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Skeletal dysplasia
- Fetal anomalies
- Mosaic skin disorders
- Mendeliome
- Polymicrogyria and Schizencephaly
- Cerebral vascular malformations
- Callosome
- Wilms Tumour
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3ca has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3ca has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PIK3CA was added gene: PIK3CA was added to Vascular Malformations_Somatic. Sources: Expert list Mode of inheritance for gene: PIK3CA was set to Other Publications for gene: PIK3CA were set to 22729224; 23246288 Phenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation (MCAP) syndrome; Cowden syndrome 5 615108 Mode of pathogenicity for gene: PIK3CA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PIK3CA was set to GREEN