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Skeletal dysplasia v4.61 | RNU4ATAC | Arina Puzriakova Phenotypes for gene: RNU4ATAC were changed from Roifman syndrome 616651; Microcephalic osteodysplastic primordial dwarfism, type I 210710 to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.153 | RNU4ATAC | Eleanor Williams Added phenotypes Roifman syndrome 616651; Microcephalic osteodysplastic primordial dwarfism, type I 210710 for gene: RNU4ATAC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.148 | RNU4ATAC | Eleanor Williams commented on gene: RNU4ATAC: Initial rating of Amber uploaded on behalf of Tracy Lester was incorrect. She has now corrected this to green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.148 | RNU4ATAC | Tracy Lester reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I 210710, Roifman syndrome 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.148 | RNU4ATAC | Tracy Lester Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | RNU4ATAC | Tracy Lester reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I 210710, Roifman syndrome 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | RNU4ATAC | Eleanor Williams reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | RNU4ATAC |
Eleanor Williams Source NHS GMS was added to RNU4ATAC. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Skeletal dysplasia | RNU4ATAC | Ellen McDonagh commented on RNU4ATAC |