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| Skeletal dysplasia v1.153 | FBN1 | Eleanor Williams Added phenotypes Geleophysic dysplasia 2 614185; Stiff skin syndrome 184900; Marfan syndrome 154700; Acromicric dysplasia 102370; Weill-Marchesani syndrome 2, dominant 608328 for gene: FBN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | FBN1 | Tracy Lester reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acromicric dysplasia 102370, Geleophysic dysplasia 2 614185, Marfan syndrome 154700, Stiff skin syndrome 184900, Weill-Marchesani syndrome 2, dominant 608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | FBN1 | Eleanor Williams reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | FBN1 |
Eleanor Williams Source NHS GMS was added to FBN1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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