Genomics England
GMS Panels
Panels
Genes and Entities

EPHB4

EPH receptor B4
OMIM: 600011
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lymphatic malformation 7, OMIM:617300, hydrops fetalis
Green
in Hereditary haemorrhagic telangiectasia
R-numbers: R186
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Capillary malformation-arteriovenous malformation 2, 618196, Capillary malformation, epistaxis, telangiectasia, cerebral AVM
Green
in Primary lymphoedema
R-numbers: R136
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lymphatic malformation 7 617300
Green
in Vascular skin disorders
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196