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Skeletal dysplasia v1.153 | NEU1 | Eleanor Williams Added phenotypes Sialidosis, type II 256550; Sialidosis, type I 256550 for gene: NEU1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | NEU1 | Tracy Lester reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sialidosis, type I 256550, Sialidosis, type II 256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | NEU1 | Eleanor Williams reviewed gene: NEU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | NEU1 |
Eleanor Williams Source NHS GMS was added to NEU1. Rating Changed from Green List (high evidence) to Green List (high evidence) |