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Hereditary Haemorrhagic Telangiectasia v0.12 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Hereditary Haemorrhagic Telangiectasia v0.12 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Hereditary Haemorrhagic Telangiectasia v0.12 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Hereditary Haemorrhagic Telangiectasia v0.11 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
Hereditary Haemorrhagic Telangiectasia v0.0 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Hereditary Haemorrhagic Telangiectasia_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 telangiectasia; pulmonary arterial hypertension; epistaxis; pulmonary arteriovenous malformation; cerebral pulmonary arteriovenous malformation; hepatic arteriovenous malformation; Telangiectasia, hereditary hemorrhagic, type 2 600376