Primary lymphoedema
Gene: EPHB4
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
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.
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
Phenotypes for gene: EPHB4 were changed from Lymphatic malformation 7 617300 to Lymphatic malformation 7, OMIM:617300
Mode of inheritance for gene EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPHB4 were set to 27400125
Phenotypes for gene: EPHB4 were changed from Autosomal Dominant Lymphatic Related Hydrops Fetalis to Lymphatic malformation 7 617300
Source London South GLH was added to EPHB4. Rating Changed from Green List (high evidence) to Green List (high evidence)
A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for EPHB4 were set to Autosomal Dominant Lymphatic Related Hydrops Fetalis
This gene has been classified as Green List (High Evidence).
Phenotypes for EPHB4 were set to Autosomal Dominant Lymphatic Related Hydrops Fetalis
EPHB4 was added to Lymphatic Disorderspanel. Source: Literature
EPHB4 was added to Lymphatic Disorderspanel. Sources: Expert list
EPHB4 was created by sleigh