EPHB4

EPH receptor B4
OMIM: 600011, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

No list EPHB4 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert list
Phenotypes
  • Lymphatic malformation 7, MIM#617300

No list EPHB4 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

review Not set
Sources
  • Expert Review Removed
Tags
  • curated_removed

Amber EPHB4 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.55
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, OMIM:618196

Green EPHB4 in Hereditary haemorrhagic telangiectasia

Level 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 2.7
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, 618196
  • Capillary malformation, epistaxis, telangiectasia, cerebral AVM

Green EPHB4 in Vascular skin disorders


Version 1.47
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
  • CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, OMIM:618196

Green EPHB4 in Fetal anomalies


Version 1.698
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • hydrops fetalis gene

Red EPHB4 in DDG2P


Version 2.39
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Capillary malformation-arteriovenous malformation 2

    Green EPHB4 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 2.13
    Latest signed off version: v2.2 (2 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London South GLH
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Lymphatic malformation 7 617300

    Green EPHB4 in Severe Paediatric Disorders


    Version 1.81

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Capillary malformation-arteriovenous malformation 2, 618196
    • Lymphatic malformation 7, 617300