| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Vascular Malformations_Somatic v0.8 | PIK3CA | Zornitza Stark Marked gene: PIK3CA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.8 | PIK3CA | Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.8 | PIK3CA | Zornitza Stark Classified gene: PIK3CA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.8 | PIK3CA | Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.7 | PIK3CA |
Zornitza Stark 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 Added comment: 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 list |
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