Hydrops fetalis
Gene: EPHB4EnsemblGeneIds (GRCh38): ENSG00000196411
EnsemblGeneIds (GRCh37): ENSG00000196411
OMIM: 600011, Gene2Phenotype
EPHB4 is in 8 panels
1 review
Abhijit Kulkarni (Healius Pathology)
Ephrin type B receptor 4 (EPHB4) is a major regulator of embryonic lymphatic development.
Lymphatic malformation-7 (LMPHM7) (AD with variable expressivity) is caused by heterozygous mutation in the EPHB4 gene.Created: 24 Mar 2022, 11:54 p.m. | Last Modified: 24 Mar 2022, 11:54 p.m.
Panel Version: 0.232
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lymphatic malformation 7 (MIM#617300), AD
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Lymphatic malformation 7 (MIM#617300), AD
- OMIM
- 600011
- Clinvar variants
- Variants in EPHB4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ephb4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EPHB4 were changed from to Lymphatic malformation 7 (MIM#617300), AD
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: EPHB4 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: EPHB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EPHB4 was added gene: EPHB4 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPHB4 was set to Unknown