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Skeletal dysplasia v1.153 | LEMD3 | Eleanor Williams Added phenotypes Melorheostosis with osteopoikilosis 155950 IC; Osteopoikilosis 166700; Buschke-Ollendorff syndrome 166700 for gene: LEMD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | LEMD3 | Tracy Lester reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Buschke-Ollendorff syndrome 166700, Melorheostosis with osteopoikilosis 155950 IC, Osteopoikilosis 166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | LEMD3 | Eleanor Williams reviewed gene: LEMD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | LEMD3 |
Eleanor Williams Source NHS GMS was added to LEMD3. Rating Changed from Green List (high evidence) to Green List (high evidence) |