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| DDG2P v3.12 | RNU4ATAC | Achchuthan Shanmugasundram reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22581640, 21474761, 21474760, 17666473; Phenotypes: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I, OMIM:210710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RNU4ATAC |
Achchuthan Shanmugasundram Mode of pathogenicity for gene RNU4ATAC was changed from Other - please provide details in the comments to Other Publications for gene: RNU4ATAC were updated from 17666473; 21474761; 22581640; 21474760 to 22581640; 21474761; 21474760; 17666473 |
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| DDG2P v0.2 | RNU4ATAC | Rebecca Foulger reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RNU4ATAC |
Rebecca Foulger gene: RNU4ATAC was added gene: RNU4ATAC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 17666473; 21474761; 22581640; 21474760 Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710 Mode of pathogenicity for gene: RNU4ATAC was set to Other - please provide details in the comments |
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