| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Vascular Malformations_Somatic v0.15 | ACVRL1 | Zornitza Stark Marked gene: ACVRL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.15 | ACVRL1 | Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.15 | ACVRL1 | Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.15 | ACVRL1 | Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.9 | ACVRL1 |
Chris Richmond gene: ACVRL1 was added gene: ACVRL1 was added to Vascular Malformations_Somatic. Sources: Expert Review Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACVRL1 were set to 21378382 Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 (600376) Penetrance for gene: ACVRL1 were set to unknown Review for gene: ACVRL1 was set to GREEN gene: ACVRL1 was marked as current diagnostic Added comment: Primarily germline, but mosaic cases reported Sources: Expert Review |
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