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Skeletal dysplasia v1.153 | SGSH | Eleanor Williams Added phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900 for gene: SGSH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | SGSH | Tracy Lester reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | SGSH | Eleanor Williams reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | SGSH |
Eleanor Williams Source NHS GMS was added to SGSH. Rating Changed from Green List (high evidence) to Green List (high evidence) |