ACVRL1

activin A receptor like type 1
OMIM: 601284
PanelMode of inheritanceDetails
5 panels
R-numbers: R90
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
600376 Telangiectasia, hereditary hemorrhagic, type 2
R-numbers: R336
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2 600376
R-numbers: R186
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2 600376, epistaxis, telangiectasia, hepatic arteriovenous malformation, pulmonary arteriovenous malformation, cerebral pulmonary arteriovenous malformation, pulmonary arterial hypertension
R-numbers: R188
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2, 600376, Heritable pulmonary arterial hypertension, HPAH
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary haemorrhagic telengiectasia