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| Skeletal dysplasia v1.153 | FLNB | Eleanor Williams Added phenotypes Spondylocarpotarsal synostosis syndrome 272460; Atelosteogenesis, type III 108721; Boomerang dysplasia 112310; Atelosteogenesis, type I 108720; Larsen syndrome 150250 for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | FLNB | Tracy Lester reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Atelosteogenesis, type I 108720, Atelosteogenesis, type III 108721, Boomerang dysplasia 112310, Larsen syndrome 150250, Spondylocarpotarsal synostosis syndrome 272460; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | FLNB | Eleanor Williams reviewed gene: FLNB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | FLNB |
Eleanor Williams Source NHS GMS was added to FLNB. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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