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Vascular Malformations_Somatic v1.6 EPHB4 Bryony Thompson Marked gene: EPHB4 as ready
Vascular Malformations_Somatic v1.6 EPHB4 Bryony Thompson Gene: ephb4 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v1.6 EPHB4 Bryony Thompson Classified gene: EPHB4 as Amber List (moderate evidence)
Vascular Malformations_Somatic v1.6 EPHB4 Bryony Thompson Gene: ephb4 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v1.5 EPHB4 Bryony Thompson gene: EPHB4 was added
gene: EPHB4 was added to Vascular Malformations_Somatic. Sources: Other
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHB4 were set to 31300548; 30760892
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation
Review for gene: EPHB4 was set to AMBER
Added comment: A single CV-AVM case has been reported with mosaicism of an EPHB4 variant. Mosaicism has also been reported for the other CV-AVM gene, RASA1.
Sources: Other