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Skeletal dysplasia v1.153 POLR1A Eleanor Williams Added phenotypes Acrofacial dysostosis, Cincinnati type 616462 for gene: POLR1A
Skeletal dysplasia v1.147 POLR1A Tracy Lester reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25913037; Phenotypes: Acrofacial dysostosis, Cincinnati type 616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.146 POLR1A Eleanor Williams reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 POLR1A Eleanor Williams Source NHS GMS was added to POLR1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)