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Vascular skin disorders v1.6 ACVRL1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hereditary haemorrhagic telengiectasia
Vascular skin disorders v1.6 ACVRL1 Ivone Leong Phenotypes for gene: ACVRL1 were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376
Vascular skin disorders v1.5 ACVRL1 Ivone Leong Publications for gene: ACVRL1 were set to
Vascular skin disorders v0.24 ACVRL1 Tom Cullup reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8640225; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.5 ACVRL1 Rebecca Foulger Source London North GLH was added to ACVRL1.
Vascular skin disorders v0.4 ACVRL1 Rebecca Foulger reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.3 ACVRL1 Rebecca Foulger gene: ACVRL1 was added
gene: ACVRL1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Hereditary haemorrhagic telengiectasia