ENG

endoglin
OMIM: 131195, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red ENG in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Green ENG in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Other Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Red ENG in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Pulmonary Disease
Green ENG in Hereditary haemorrhagic telangiectasia Level 3: Vascular lung disorders Level 2: Respiratory disorders Version 3.6 Latest signed off version: v3.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Eligibility statement prior genetic testing Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen 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)
Red ENG in GI tract tumours Level 3: GI tract Level 2: Tumour syndromes Version 1.22	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Juvenile Polyposis
Green ENG in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, 187300 Bleeding disorder
Green ENG in Vascular skin disorders Version 1.63 Latest signed off version: v1.3 (15 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Green ENG in Pulmonary arterial hypertension Level 3: Pulmonary heart disease Level 2: Cardiovascular disorders Version 3.5 Latest signed off version: v3.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert list Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Eligibility statement prior genetic testing Literature Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, 187300 Heritable pulmonary arterial hypertension HPAH Hereditary hemorrhagic telangiectasia HHT
Green ENG in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1
Amber ENG in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Green ENG in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, 187300