Primary lymphoedema

Gene: EPHB4

Green List (high evidence)

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

3 reviews

Sahar Mansour (St George's Hospital, London)

Green List (high evidence)

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)

I don't know

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)

Green List (high evidence)

Yes, although rare
Created: 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
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Lymphatic malformation 7 617300
OMIM
600011
Clinvar variants
Variants in EPHB4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 3

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

19 Jun 2019, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: EPHB4 were set to 27400125

19 Jun 2019, Gel status: 4

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

20 Feb 2019, Gel status: 3

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)

2 Nov 2016, Gel status: 4

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

26 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Oct 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EPHB4 were set to Autosomal Dominant Lymphatic Related Hydrops Fetalis

26 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Oct 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EPHB4 were set to Autosomal Dominant Lymphatic Related Hydrops Fetalis

30 Sep 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

EPHB4 was added to Lymphatic Disorderspanel. Source: Literature

30 Sep 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

EPHB4 was added to Lymphatic Disorderspanel. Sources: Expert list

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EPHB4 was created by sleigh