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| Skeletal dysplasia v1.153 | TRPS1 | Eleanor Williams Added phenotypes Trichorhinophalangeal syndrome, type III 190351; Trichorhinophalangeal syndrome, type I 190350 for gene: TRPS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | TRPS1 | Tracy Lester reviewed gene: TRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Trichorhinophalangeal syndrome, type I 190350, Trichorhinophalangeal syndrome, type III 190351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | TRPS1 | Eleanor Williams reviewed gene: TRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | TRPS1 |
Eleanor Williams Source NHS GMS was added to TRPS1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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