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| Common craniosynostosis syndromes v1.8 | FGFR1 | Eleanor Williams Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600 to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600; Trigonocephaly 1 OMIM:190440 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v1.7 | FGFR1 | Eleanor Williams Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v0.9 | FGFR1 | Eleanor Williams Added comment: Comment on mode of pathogenicity: From reviews on the Craniosynostosis panel - a very limited number of gain of function mutations are associated with craniosynostosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v0.9 | FGFR1 | Eleanor Williams Mode of pathogenicity for gene: FGFR1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v0.5 | FGFR1 | Eleanor Williams Phenotypes for gene: FGFR1 were changed from to Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v0.3 | FGFR1 | Eleanor Williams reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common craniosynostosis syndromes v0.2 | FGFR1 |
Eleanor Williams gene: FGFR1 was added gene: FGFR1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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