Genomics England
GMS Panels
Panels
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endoglin
OMIM: 131195
PanelMode of inheritanceDetails
5 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
187300 Telangiectasia, hereditary hemorrhagic, type 1
Green
in Cerebral vascular malformations
R-numbers: R336
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Green
in Hereditary haemorrhagic telangiectasia
R-numbers: R186
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1, 187300, Epistaxis (HP:0000421), Nasal mucosa telangiectasia (HP:0000434), Lip telangiectasia (HP:0000214), Tongue telangiectasia (HP:0000227), Palate telangiectasia (HP:0002707), Finger pad telangiectasia (pulp not nail side), Gastrointestinal telangiectasia (HP:0002604), Arteriovenous malformation (HP:0100026), Cerebral arteriovenous malformation (HP:0002408), Pulmonary arteriovenous malformation (HP:0006548), Hepatic arteriovenous malformation (HP:0006574, ), Spinal arteriovenous malformation (HP:0002390)
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 1, 187300, Heritable pulmonary arterial hypertension, HPAH, Hereditary hemorrhagic telangiectasia, HHT
Green
in Vascular skin disorders
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary haemorrhagic telengiectasia