Cerebral vascular malformations
Gene: EPHB4

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association with many affected individuals presenting with CM-AVMs.
Classified as Definitive by ClinGen Prenatal GCEP on 03/11/2022 - https://search.clinicalgenome.org/CCID:004755
Created: 18 Nov 2024, 5:02 a.m. | Last Modified: 18 Nov 2024, 5:02 a.m.

Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EPHB4-associated vascular malformation spectrum MONDO:0700080

Publications

Created: 18 Nov 2024, 5:02 a.m.
Last Modified: 18 Nov 2024, 5:02 a.m.
Panel version: 0.39

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Capillary malformation-arteriovenous malformation 2, 618196

OMIM

600011

Clinvar variants

Variants in EPHB4

Penetrance

None

Panels with this gene

History Filter Activity

27 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 May 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EPHB4 was added gene: EPHB4 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, 618196

Cerebral vascular malformations Gene: EPHB4