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| Radial dysplasia v1.12 | NPM1 | Arina Puzriakova Mode of inheritance for gene: NPM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial dysplasia v1.11 | NPM1 | Arina Puzriakova Classified gene: NPM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial dysplasia v1.11 | NPM1 | Arina Puzriakova Added comment: Comment on list classification: Rated Red as skeletal abnormalities in the radius only observed in one patient. Additional cases required to corroborate causality and better define the phenotype. Both variants currently classified VUS - no information regarding segregation or zygosity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial dysplasia v1.11 | NPM1 | Arina Puzriakova Gene: npm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial dysplasia v1.10 | NPM1 | Arina Puzriakova reviewed gene: NPM1: Rating: ; Mode of pathogenicity: None; Publications: 31570891; Phenotypes: Dyskeratosis congenita; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial dysplasia v1.10 | NPM1 |
Zornitza Stark gene: NPM1 was added gene: NPM1 was added to Radial dysplasia. Sources: Expert list Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Review for gene: NPM1 was set to GREEN gene: NPM1 was marked as current diagnostic Added comment: Recently reported association with a dyskeratosis congenita phenotype; supportive mouse model. Sources: Expert list |
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