EPHB4

EPH receptor B4
OMIM: 600011, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green EPHB4 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphatic malformation 7 (MIM#617300), AD
Green EPHB4 in Mendeliome Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD Lymphatic malformation 7 (MIM#617300), AD
Green EPHB4 in Hereditary Haemorrhagic Telangiectasia Level 2: Vascular disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Capillary malformation-arteriovenous malformation-2, MIM# 618196
Green EPHB4 in Vascular Malformations_Germline Level 2: Cardiovascular disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Capillary malformation-arteriovenous malformation 2, MIM#618196
Green EPHB4 in Lymphoedema Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes EPHB4-associated vascular malformation spectrum MONDO:0700080
Green EPHB4 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Capillary malformation-arteriovenous malformation 2, 618196
Amber EPHB4 in Vascular Malformations_Somatic Level 2: Cardiovascular disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Capillary malformation-arteriovenous malformation
Green EPHB4 in Fetal anomalies Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD Lymphatic malformation 7 (MIM#617300), AD hydrops fetalis