ACVRL1

activin A receptor like type 1
OMIM: 601284, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green ACVRL1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Green ACVRL1 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376 Childhood Pulmonary Arterial Hypertension
Green ACVRL1 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Green ACVRL1 in Additional findings_Adult Level 2: Screening Version 0.166	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Green ACVRL1 in Hereditary Haemorrhagic Telangiectasia Level 2: Vascular disorders Version 1.5	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes telangiectasia pulmonary arterial hypertension epistaxis pulmonary arteriovenous malformation cerebral pulmonary arteriovenous malformation hepatic arteriovenous malformation Telangiectasia, hereditary hemorrhagic, type 2 600376
Green ACVRL1 in Vascular Malformations_Germline Level 2: Cardiovascular disorders Version 1.11 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes cerebral pulmonary arteriovenous malformation pulmonary arteriovenous malformation hepatic arteriovenous malformation epistaxis pulmonary arterial hypertension Telangiectasia, hereditary hemorrhagic, type 2 600376 telangiectasia
Green ACVRL1 in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Green ACVRL1 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Green ACVRL1 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 600376
Green ACVRL1 in Vascular Malformations_Somatic Level 2: Cardiovascular disorders Version 1.13 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 (600376)
Green ACVRL1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 2
Green ACVRL1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Green ACVRL1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376 Tags treatable vascular
Green ACVRL1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376