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| Vascular Malformations_Germline v0.117 | PIK3CA | Zornitza Stark Marked gene: PIK3CA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.117 | PIK3CA | Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.117 | PIK3CA | Zornitza Stark Phenotypes for gene: PIK3CA were changed from Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.116 | PIK3CA | Zornitza Stark Publications for gene: PIK3CA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.115 | PIK3CA | Zornitza Stark Mode of pathogenicity for gene: PIK3CA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.114 | PIK3CA | Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.35 | PTPN11 |
Bryony Thompson gene: PTPN11 was added gene: PTPN11 was added to Inherited Vascular Malformations. Sources: Expert list Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTPN11 were set to 27193571; 24939587; 29907801 Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; cystic hygroma Review for gene: PTPN11 was set to GREEN Added comment: A pathogenic de novo variant was identied in a case diagnosed with megalencephaly-capillary malformation (MCAP) syndrome. However, the cases also had a somatic mosaic variant in PIK3CA which is the usual cause of MCAP. One of the prominent features of Noonan syndrome caused by this gene is cystic hygromas. Sources: Expert list |
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| Vascular Malformations_Germline v0.32 | PIK3CA | Bryony Thompson Classified gene: PIK3CA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.32 | PIK3CA | Bryony Thompson Added comment: Comment on list classification: Somatic activating mutaitons are the main cause of vascular malformations, but four individuals with germline variants have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.32 | PIK3CA | Bryony Thompson Gene: pik3ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.31 | PIK3CA | Bryony Thompson Tag somatic tag was added to gene: PIK3CA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.31 | PIK3CA | Bryony Thompson reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 22729224, 23246288; Phenotypes: Megalencephaly-capillary malformation (MCAP) syndrome, Cowden syndrome 5 615108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.0 | PIK3CA |
Bryony Thompson gene: PIK3CA was added gene: PIK3CA was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PIK3CA was set to Phenotypes for gene: PIK3CA were set to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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