Activity

Filter

Cancel
Date Panel Item Activity
4 actions
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)