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| Vascular Malformations_Germline v0.93 | PTPN11 | Zornitza Stark Marked gene: PTPN11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.93 | PTPN11 | Zornitza Stark Added comment: Comment when marking as ready: No evidence for association between germline variants and vascular malformations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.93 | PTPN11 | Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.69 | PTPN11 | Bryony Thompson edited their review of gene: PTPN11: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.69 | PTPN11 | Bryony Thompson changed review comment from: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital; to: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.36 | PTPN11 | Bryony Thompson Classified gene: PTPN11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.36 | PTPN11 | Bryony Thompson Added comment: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.36 | PTPN11 | Bryony Thompson Gene: ptpn11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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