Vascular skin disorders
Gene: EPHB4
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: EPHB4; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 12:05 p.m.
Phenotypes for gene: EPHB4 were changed from CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, OMIM:618196 to Capillary malformation-arteriovenous malformation 2, OMIM:618196
Phenotypes for gene: EPHB4 were changed from CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196 to CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, OMIM:618196
Publications for gene: EPHB4 were set to
Source London North GLH was added to EPHB4.
gene: EPHB4 was added gene: EPHB4 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EPHB4 were set to CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196