1. Genes and Genomic Entities
  2. EPHB4

EPHB4

EPH receptor B4
OMIM: 600011, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green EPHB4 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lymphatic malformation 7, OMIM:617300
No list EPHB4 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121

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 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 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 3.6
Latest signed off version: v3.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, OMIM:618196
  • Capillary malformation, epistaxis, telangiectasia, cerebral AVM
Amber EPHB4 in Mosaic skin disorders - deep sequencing


Version 2.47
Latest signed off version: v2.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, OMIM:618196
Tags
  • watchlist
Green EPHB4 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
  • Capillary malformation-arteriovenous malformation 2, OMIM:618196
Green EPHB4 in Fetal anomalies


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Lymphatic malformation 7, OMIM:617300
  • hydrops fetalis
Red EPHB4 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

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 3.11
    Latest signed off version: v3.0 (30 Nov 2022)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London South GLH
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Lymphatic malformation 7, OMIM:617300
    Green EPHB4 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
    • Capillary malformation-arteriovenous malformation 2, 618196
    • Lymphatic malformation 7, 617300