Cytopenias and congenital anaemias
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: 5 Aug 2020, 1:24 p.m. | Last Modified: 5 Aug 2020, 1:24 p.m.
Panel Version: 1.74
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: 5 Aug 2020, 1:15 p.m. | Last Modified: 5 Aug 2020, 1:15 p.m.
Panel Version: 1.73
Mode of inheritance
Unknown
Phenotypes
Dyskeratosis congenita
Publications
Recently reported association between germline variants and dyskeratosis congenita phenotype; supportive mouse model.Created: 23 Jul 2020, 8:03 a.m. | Last Modified: 23 Jul 2020, 8:03 a.m.
Panel Version: 1.73
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
radial ray defects; short stature; nail dsytrophy; bone marrow failure
Publications
Mode of inheritance
Unknown
Phenotypes
Acute myeloid leukaemia (AML)
Mode of inheritance
Unknown
Phenotypes
Acute myeloid leukaemia (AML)
Variants in this GENE are reported as part of current diagnostic practice
Gene: npm1 has been classified as Amber List (Moderate Evidence).
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
NPM1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
NPM1 was created by LouiseD
NPM1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)