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Skeletal dysplasia v1.153 | CTSC | Eleanor Williams Added phenotypes Haim-Munk syndrome 245010, for gene: CTSC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | CTSC | Tracy Lester reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: ; Publications: 15727652, 26205983, 24966751; Phenotypes: Haim-Munk syndrome 245010, ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | CTSC | Eleanor Williams reviewed gene: CTSC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | CTSC |
Eleanor Williams Source NHS GMS was added to CTSC. Rating Changed from Green List (high evidence) to Green List (high evidence) |