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Skeletal dysplasia v1.153 | POLR1D | Eleanor Williams Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | POLR1D | Tracy Lester reviewed gene: POLR1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher Collins syndrome 2 613717; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | POLR1D | Eleanor Williams reviewed gene: POLR1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | POLR1D |
Eleanor Williams Source NHS GMS was added to POLR1D. Rating Changed from Green List (high evidence) to Green List (high evidence) |