| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Common craniosynostosis syndromes v1.6 | ERF | Eleanor Williams Phenotypes for gene: ERF were changed from Craniosynostosis 4 600775 to Craniosynostosis 4 OMIM:600775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v1.5 | ERF | Eleanor Williams Phenotypes for gene: ERF were changed from Chitayat syndrome 617180; Craniosynostosis 4 600775 to Craniosynostosis 4 600775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.3 | ERF | Eleanor Williams reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v0.2 | ERF |
Eleanor Williams gene: ERF was added gene: ERF was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ERF were set to Chitayat syndrome 617180; Craniosynostosis 4 600775 |
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