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Fetal anomalies

Gene: EPHB4

Green List (high evidence)

EPHB4 (EPH receptor B4)
EnsemblGeneIds (GRCh38): ENSG00000196411
EnsemblGeneIds (GRCh37): ENSG00000196411
OMIM: 600011, Gene2Phenotype
EPHB4 is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in EPHB4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).
Created: 18 Apr 2019, 3:51 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Primary lymphoedema' panel. Sufficient evidence to support hydrops fetalis association as part of MIM:617300, with 3 variants listed in OMIM from 3 families, each with multiple affected individuals (PMIDs:27400125 and 29905864).
Created: 22 Jan 2019, 9:07 a.m.
Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (hydrops fetalis) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Created: 18 Dec 2018, 9:16 p.m.
DDG2P rating in original PAGE list: Probable.
Created: 11 Dec 2018, 9:04 a.m.

Phenotypes
Lymphatic malformation 7, 617300

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • hydrops fetalis gene
OMIM
600011
Clinvar variants
Variants in EPHB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ephb4 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: EPHB4 was added gene: EPHB4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPHB4 were set to 27400125 Phenotypes for gene: EPHB4 were set to hydrops fetalis gene