Genomics England

ephrin B1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Craniofrontonasal dysplasia, OMIM:304110
Green in Common craniosynostosis syndromes R-numbers: R99 Signed-off version 1.16	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Craniofrontonasal dysplasia OMIM:304110
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes CRANIOFRONTONASAL SYNDROME, OMIM:304110
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Craniofrontonasal dysplasia, OMIM:304110
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 6.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Craniofrontonasal dysplasia, OMIM:304110