Genomics England

activin A receptor like type 1

Panel	Mode of inheritance	Details
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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 Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	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