ENG

endoglin
OMIM: 131195, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ENG in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.62	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Green ENG in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300 Pulmonary arterial hypertension
Green ENG in Mendeliome Version 1.3512	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary hemorrhagic telangiectasia MONDO:0019180
Green ENG in Additional findings_Adult Level 2: Screening Version 1.130	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Green ENG in Hereditary Haemorrhagic Telangiectasia Level 2: Vascular disorders Version 1.5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, 187300 Gastrointestinal telangiectasia (HP:0002604) Palate telangiectasia (HP:0002707) Lip telangiectasia (HP:0000214) Pulmonary arteriovenous malformation (HP:0006548) Nasal mucosa telangiectasia (HP:0000434) Tongue telangiectasia (HP:0000227) Epistaxis (HP:0000421) Cerebral arteriovenous malformation (HP:0002408) Hepatic arteriovenous malformation (HP:0006574 Spinal arteriovenous malformation (HP:0002390) ) Finger pad telangiectasia (pulp not nail side) Arteriovenous malformation (HP:0100026)
Green ENG in Vascular Malformations_Germline Level 2: Cardiovascular disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epistaxis (HP:0000421) Spinal arteriovenous malformation (HP:0002390) Tongue telangiectasia (HP:0000227) Telangiectasia, hereditary hemorrhagic, type 1, 187300 Cerebral arteriovenous malformation (HP:0002408) Palate telangiectasia (HP:0002707) Hepatic arteriovenous malformation (HP:0006574 Lip telangiectasia (HP:0000214) Arteriovenous malformation (HP:0100026) Nasal mucosa telangiectasia (HP:0000434) Pulmonary arteriovenous malformation (HP:0006548) ) Finger pad telangiectasia (pulp not nail side) Gastrointestinal telangiectasia (HP:0002604)
Green ENG in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 1.45	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300 Pulmonary arterial hypertension
Green ENG in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.28	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Telangiectasia, hereditary hemorrhagic, type 1 187300
Green ENG in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 1.9 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 1 187300
Green ENG in Vascular Malformations_Somatic Level 2: Cardiovascular disorders Version 1.16 Component of the following Super Panels: Vascular Malformations SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 (600376)
Green ENG in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 1
Green ENG in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300 Tags treatable vascular
Green ENG in Transplant Co-Morbidity Level 2: Screening Version 0.20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300