Fetal hydrops

Gene: EPHB4

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported, hydrops fetalis is a key feature of this condition.
Sources: Expert list
Created: 30 Dec 2019, 5:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Lymphatic malformation 7, MIM#617300

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
Phenotypes
  • Lymphatic malformation 7, MIM#617300
OMIM
600011
Clinvar variants
Variants in EPHB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EPHB4 was added gene: EPHB4 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: EPHB4 were set to 2990564; 27400125 Phenotypes for gene: EPHB4 were set to Lymphatic malformation 7, MIM#617300 Review for gene: EPHB4 was set to GREEN gene: EPHB4 was marked as current diagnostic