Cytopenias and congenital anaemias
Gene: NPM1EnsemblGeneIds (GRCh38): ENSG00000181163
EnsemblGeneIds (GRCh37): ENSG00000181163
OMIM: 164040, Gene2Phenotype
NPM1 is in 4 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
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.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
Zornitza Stark (Australian Genomics)
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
Arianna Tucci (Genomics England Curator)
Mode of inheritance
Unknown
Phenotypes
Acute myeloid leukaemia (AML)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Acute myeloid leukaemia (AML)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Acute myeloid leukaemia (AML)
- Tags
- OMIM
- 164040
- Clinvar variants
- Variants in NPM1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: npm1 has been classified as Amber List (Moderate Evidence).
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Added New Source
Sarah Leigh (Genomics England Curator)NPM1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
Created
Louise Daugherty (Genomics England Curator)NPM1 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)NPM1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)