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  2. Vascular Malformations_Somatic
  3. EPHB4
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Vascular Malformations_Somatic

Gene: EPHB4

Amber List (moderate evidence)
EPHB4 (EPH receptor B4)
EnsemblGeneIds (GRCh38): ENSG00000196411
EnsemblGeneIds (GRCh37): ENSG00000196411
OMIM: 600011, Gene2Phenotype
EPHB4 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single CV-AVM case has been reported with mosaicism of an EPHB4 variant. Mosaicism has also been reported for the other CV-AVM gene, RASA1.
Sources: Other
Created: 2 Sep 2021, 5:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Capillary malformation-arteriovenous malformation

Publications

Created: 2 Sep 2021, 5:37 a.m.

Panel version: 1.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Capillary malformation-arteriovenous malformation
OMIM
600011
Clinvar variants
Variants in EPHB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ephb4 has been classified as Amber List (Moderate Evidence).

2 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ephb4 has been classified as Amber List (Moderate Evidence).

2 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EPHB4 was added gene: EPHB4 was added to Vascular Malformations_Somatic. Sources: Other Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPHB4 were set to 31300548; 30760892 Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation Review for gene: EPHB4 was set to AMBER