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| Bone Marrow Failure v0.113 | NPM1 | Zornitza Stark reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.10 | NPM1 | Sue White Classified gene: NPM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.10 | NPM1 | Sue White Gene: npm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.9 | NPM1 | Sue White Marked gene: NPM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.9 | NPM1 | Sue White Gene: npm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.9 | NPM1 |
Sue White gene: NPM1 was added gene: NPM1 was added to Bone Marrow Failure_VCGS. Sources: Literature Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NPM1 were set to 31570891 Phenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure Penetrance for gene: NPM1 were set to unknown Mode of pathogenicity for gene: NPM1 was set to Other Review for gene: NPM1 was set to GREEN Added comment: heterozygous presumed LOF variants cause a dyskeratosis congenita phenotype Sources: Literature |
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