Cytopenia - NOT Fanconi anaemia
Gene: NPM1Comment 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.Created: 28 Sep 2020, 1:47 p.m. | Last Modified: 28 Sep 2020, 1:47 p.m.
Panel Version: 1.10
Possible association with dyskeratosis congenita noted in OMIM (variants classified as VUS), and a probable gene for this phenotype in G2P.
PMID: 31570891 (2019) - NPM1 variants identified in two unrelated individuals with features of dyskeratosis congenita. One patient, who presented with severe growth defects, thumb abnormalities and thrombocytopenia, harboured an NPM1 missense variant (c.532G>C, p.D178H). The second patient, with an in-frame deletion (c.538_540del, p.D180del), presented with skin pigmentation abnormalities, nail dystrophy, microcephaly, developmental delay, short stature, radial skeletal anomalies, and developed bone marrow failure by age 6. No information regarding the zygosity or familial segregation was provided in either case. Some supportive functional data, including an animal model.Created: 28 Sep 2020, 1:46 p.m. | Last Modified: 28 Sep 2020, 1:46 p.m.
Panel Version: 1.9
Mode of inheritance
Unknown
Phenotypes
Dyskeratosis congenita
Publications
Two unrelated individuals with a dyskeratosis congenita phenotype and extensive functional data to support gene-disease relationship.
Sources: Expert listCreated: 14 Sep 2020, 4:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
radial ray defects; short stature; nail dsytrophy; bone marrow failure
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: NPM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
Gene: npm1 has been classified as Amber List (Moderate Evidence).
gene: NPM1 was added gene: NPM1 was added to Cytopenia - NOT Fanconi anaemia. 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