Cerebral vascular malformations
Gene: EPHB4
Established gene-disease association with many affected individuals presenting with CM-AVMs.
Classified as Definitive by ClinGen Prenatal GCEP on 03/11/2022 - https://search.clinicalgenome.org/CCID:004755Created: 18 Nov 2024, 5:02 a.m. | Last Modified: 18 Nov 2024, 5:02 a.m.
Panel Version: 0.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
EPHB4-associated vascular malformation spectrum MONDO:0700080
Publications
Well established gene-disease associations, variable expressivity.Created: 6 Dec 2021, 7:08 a.m. | Last Modified: 6 Dec 2021, 7:08 a.m.
Panel Version: 0.10130
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD; Lymphatic malformation 7 (MIM#617300), AD
Publications
Gene: ephb4 has been classified as Green List (High Evidence).
gene: EPHB4 was added gene: EPHB4 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp 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