Wilms Tumour
Gene: PIK3CAEnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Limited evidence for presentation with Wilms tumour in disease. GOF and mosaic variants.
Sources: Expert list, Expert ReviewCreated: 26 Sep 2024, 1:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Wilms tumor, MONDO:0006058; PIK3CA-related overgrowth spectrum, MONDO:1040002; PIK3CA-related overgrowth syndrome, multiple MIM#
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, NOT imprinted
- Sources
-
- Expert Review Red
- Expert Review
- Expert list
- Phenotypes
-
- Wilms tumor, MONDO:0006058
- PIK3CA-related overgrowth spectrum, MONDO:1040002
- PIK3CA-related overgrowth syndrome, multiple MIM#
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- None
- 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 Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Chirag Patel (Genetic Health Queensland)gene: PIK3CA was added gene: PIK3CA was added to Wilms Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CA were set to Wilms tumor, MONDO:0006058; PIK3CA-related overgrowth spectrum, MONDO:1040002; PIK3CA-related overgrowth syndrome, multiple MIM# 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 RED