Genomics England
GMS Panels
Panels
Genes and Entities

ACVRL1

activin A receptor like type 1
OMIM: 601284
PanelMode of inheritanceDetails
5 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
600376 Telangiectasia, hereditary hemorrhagic, type 2
Green
in Cerebral vascular malformations
R-numbers: R336
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2, OMIM, 600376
Green
in Hereditary haemorrhagic telangiectasia
R-numbers: R186
Signed-off version 3.0
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
Green
in Pulmonary arterial hypertension
R-numbers: R188
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2, 600376, Heritable pulmonary arterial hypertension, HPAH
Green
in Vascular skin disorders
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary haemorrhagic telengiectasia