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| Skeletal dysplasia v1.153 | FGFR1 | Eleanor Williams Added phenotypes Osteoglophonic dysplasia 166250; Hartsfield syndrome 615465; Jackson-Weiss syndrome 123150; Pfeiffer syndrome 101600; Trigonocephaly 1 190440 for gene: FGFR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | FGFR1 | Tracy Lester reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Hartsfield syndrome 615465, Jackson-Weiss syndrome 123150, Osteoglophonic dysplasia 166250, Pfeiffer syndrome 101600, Trigonocephaly 1 190440; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | FGFR1 | Eleanor Williams reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | FGFR1 |
Eleanor Williams Source NHS GMS was added to FGFR1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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