Cerebral vascular malformations
Gene: EPHB4
Comment on list classification: New Amber gene - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformationsCreated: 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 malformationsCreated: 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 listCreated: 29 Nov 2019, 3:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Capillary malformation-arteriovenous malformation 2, 618196
Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2, 618196 to Capillary malformation-arteriovenous malformation 2, OMIM:618196
Source Yorkshire and North East GLH was added to EPHB4.
Source NHS GMS was added to EPHB4.
Gene: ephb4 has been classified as Amber List (Moderate Evidence).
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