PanelApp
  1. Genes and Genomic Entities
  2. EPHB4

EPHB4

EPH receptor B4
OMIM: 600011, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green EPHB4 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.328

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 1.4741

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 1.6

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 1.13

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
    • Capillary malformation-arteriovenous malformation 2, MIM#618196

    Green EPHB4 in Lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.32

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  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 1.12

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • Vascular Malformations SuperPanel

    		•  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 1.16

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Capillary malformation-arteriovenous malformation

    Green EPHB4 in Fetal anomalies


    Version 1.558

    		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