Cerebral vascular malformations

Gene: EPHB4

Amber List (moderate evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: New Amber gene - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Created: 29 Nov 2019, 3:44 p.m. | Last Modified: 29 Nov 2019, 3:44 p.m.
Panel Version: 1.60
New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Created: 29 Nov 2019, 3:43 p.m. | Last Modified: 29 Nov 2019, 3:43 p.m.
Panel Version: 1.59
Review from clinical expert (Vijeya Ganesan: GOSH / ICH): consider for this panel. GEL clinical team (Helen Brittain) Review of PMID 28687708 suggests that 3/110 patients had CNS lesions - therefore rated as amber pending further evidence
Sources: Expert list
Created: 29 Nov 2019, 3:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Capillary malformation-arteriovenous malformation 2, 618196

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, 618196
OMIM
600011
Clinvar variants
Variants in EPHB4
Penetrance
None
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to EPHB4.

29 Nov 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to EPHB4.

29 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ephb4 has been classified as Amber List (Moderate Evidence).

29 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: EPHB4 was added gene: EPHB4 was added to Cerebral vascular malformations. Sources: Expert list Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, 618196 Review for gene: EPHB4 was set to AMBER