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Skeletal dysplasia v1.153 | RMRP | Eleanor Williams Added phenotypes Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095; Metaphyseal dysplasia without hypotrichosis 250460 for gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | RMRP | Tracy Lester reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anauxetic dysplasia 607095, Cartilage-hair hypoplasia 250250, Metaphyseal dysplasia without hypotrichosis 250460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | RMRP | Eleanor Williams reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | RMRP |
Eleanor Williams Source NHS GMS was added to RMRP. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Skeletal dysplasia | RMRP | Ellen McDonagh commented on RMRP |