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| Vascular Malformations_Germline v0.118 | ACVRL1 | Zornitza Stark Publications for gene: ACVRL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.117 | ACVRL1 | Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.60 | ACVRL1 | Bryony Thompson Marked gene: ACVRL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.60 | ACVRL1 | Bryony Thompson Gene: acvrl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.0 | ACVRL1 |
Bryony Thompson gene: ACVRL1 was added gene: ACVRL1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVRL1 were set to cerebral pulmonary arteriovenous malformation; pulmonary arteriovenous malformation; hepatic arteriovenous malformation; epistaxis; pulmonary arterial hypertension; Telangiectasia, hereditary hemorrhagic, type 2 600376; telangiectasia |
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