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Skeletal dysplasia v1.153 | BMPER | Eleanor Williams Added phenotypes Diaphanospondylodysostosis 608022 for gene: BMPER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | BMPER | Tracy Lester reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diaphanospondylodysostosis 608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | BMPER | Eleanor Williams reviewed gene: BMPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | BMPER |
Eleanor Williams Source NHS GMS was added to BMPER. Rating Changed from Green List (high evidence) to Green List (high evidence) |