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| Skeletal dysplasia v1.153 | B3GALT6 | Eleanor Williams Added phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 for gene: B3GALT6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | B3GALT6 | Tracy Lester reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ehlers-Danlos syndrome, progeroid type, 2 615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | B3GALT6 | Eleanor Williams reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | B3GALT6 |
Eleanor Williams Source NHS GMS was added to B3GALT6. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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