| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Common craniosynostosis syndromes v1.4 | EFNB1 | Eleanor Williams Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia 304110 to Craniofrontonasal dysplasia OMIM:304110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v0.10 | EFNB1 | Eleanor Williams Added comment: Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - rare example of cellular interference | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v0.10 | EFNB1 | Eleanor Williams Mode of pathogenicity for gene: EFNB1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v0.3 | EFNB1 | Eleanor Williams reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v0.2 | EFNB1 |
Eleanor Williams gene: EFNB1 was added gene: EFNB1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia 304110 |
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