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Cytopenias and congenital anaemias v1.74 | NPM1 | Arina Puzriakova Classified gene: NPM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenias and congenital anaemias v1.74 | NPM1 | Arina Puzriakova Added comment: Comment on list classification: Rated Amber as additional cases required to corroborate causality and better define the phenotype. Both variants currently classified VUS - no information regarding segregation or zygosity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenias and congenital anaemias v1.74 | NPM1 | Arina Puzriakova Gene: npm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenias and congenital anaemias v1.73 | NPM1 | Arina Puzriakova reviewed gene: NPM1: Rating: ; Mode of pathogenicity: None; Publications: 31570891; Phenotypes: Dyskeratosis congenita; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenias and congenital anaemias v1.73 | NPM1 | Zornitza Stark reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31570891; Phenotypes: radial ray defects, short stature, nail dsytrophy, bone marrow failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenias and congenital anaemias | NPM1 | Arianna Tucci reviewed NPM1 |