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| Wilms Tumour v0.40 | PIK3CA | Zornitza Stark Marked gene: PIK3CA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.40 | PIK3CA | Zornitza Stark Gene: pik3ca has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.39 | PIK3CA |
Chirag Patel 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 Added comment: ClinGen definitive. Limited evidence for presentation with Wilms tumour in disease. GOF and mosaic variants. Sources: Expert list, Expert Review |
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