Primary lymphoedema
Gene: EPHB4EnsemblGeneIds (GRCh38): ENSG00000196411
EnsemblGeneIds (GRCh37): ENSG00000196411
OMIM: 600011, Gene2Phenotype
EPHB4 is in 9 panels
3 reviews
Sahar Mansour (St George's Hospital, London)
This can manifest with hydrops fetalis, nonimmune and/or Atrial septal defect.Created: 24 Jul 2019, 10:46 a.m. | Last Modified: 24 Jul 2019, 10:46 a.m.
Panel Version: 1.88
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Capillary malformation-arteriovenous malformation 2 618196; Lymphatic malformation 7 617300
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Pia Ostergaard (St George's)
Yes, although rareCreated: 1 Nov 2016, 3:51 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autosomal Dominant Lymphatic Related Hydrops Fetalis
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- Expert Review Green
- Literature
- Expert list
- Phenotypes
-
- Lymphatic malformation 7, OMIM:617300
- OMIM
- 600011
- Clinvar variants
- Variants in EPHB4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EPHB4 were changed from Lymphatic malformation 7 617300 to Lymphatic malformation 7, OMIM:617300
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: EPHB4 were set to 27400125
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: EPHB4 were changed from Autosomal Dominant Lymphatic Related Hydrops Fetalis to Lymphatic malformation 7 617300
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to EPHB4. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for EPHB4 were set to Autosomal Dominant Lymphatic Related Hydrops Fetalis
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for EPHB4 were set to Autosomal Dominant Lymphatic Related Hydrops Fetalis
Added New Source
Sarah Leigh (Genomics England Curator)EPHB4 was added to Lymphatic Disorderspanel. Source: Literature
Added New Source
Sarah Leigh (Genomics England Curator)EPHB4 was added to Lymphatic Disorderspanel. Sources: Expert list
Created
Sarah Leigh (Genomics England Curator)EPHB4 was created by sleigh