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Skeletal dysplasia v1.153 | NFIX | Eleanor Williams Added phenotypes Marshall-Smith syndrome 602535; Sotos syndrome 2 614753 for gene: NFIX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | NFIX | Tracy Lester reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Marshall-Smith syndrome 602535, Sotos syndrome 2 614753; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | NFIX | Eleanor Williams reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | NFIX |
Eleanor Williams Source NHS GMS was added to NFIX. Rating Changed from Green List (high evidence) to Green List (high evidence) |