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| Skeletal dysplasia v1.153 | ALPL | Eleanor Williams Added phenotypes hypophosphatasia; skeletal dysplasias; Osteogenesis Imperfecta and Decreased Bone Density for gene: ALPL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | ALPL | Tracy Lester reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: hypophosphatasia, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | ALPL | Eleanor Williams reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | ALPL |
Eleanor Williams Source NHS GMS was added to ALPL. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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