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Skeletal dysplasia v1.153 | HGSNAT | Eleanor Williams Added phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 for gene: HGSNAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | HGSNAT | Tracy Lester reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | HGSNAT | Eleanor Williams reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | HGSNAT |
Eleanor Williams Source NHS GMS was added to HGSNAT. Rating Changed from Green List (high evidence) to Green List (high evidence) |