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  2. Bone Marrow Failure
  3. NPM1
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Bone Marrow Failure

Gene: NPM1

Green List (high evidence)
NPM1 (nucleophosmin 1)
EnsemblGeneIds (GRCh38): ENSG00000181163
EnsemblGeneIds (GRCh37): ENSG00000181163
OMIM: 164040, Gene2Phenotype
NPM1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two individuals, extensive functional data.
Created: 14 Sep 2020, 4 a.m. | Last Modified: 14 Sep 2020, 4 a.m.
Panel Version: 0.113

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dyskeratosis congenita

Created: 14 Sep 2020, 4 a.m.
Last Modified: 14 Sep 2020, 4 a.m.
Panel version: 0.113

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

heterozygous presumed LOF variants cause a dyskeratosis congenita phenotype
Sources: Literature
Created: 7 Jan 2020, 7:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
radial ray defects; short stature; nail dsytrophy; bone marrow failure

Publications

Mode of pathogenicity
Other

Created: 7 Jan 2020, 7:29 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • radial ray defects
  • short stature
  • nail dsytrophy
  • bone marrow failure
OMIM
164040
Clinvar variants
Variants in NPM1
Penetrance
unknown
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: npm1 has been classified as Green List (High Evidence).

7 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: npm1 has been classified as Red List (Low Evidence).

7 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Sue White (Victorian Clinical Genetics Services)

gene: NPM1 was added gene: NPM1 was added to Bone Marrow Failure_VCGS. Sources: Literature Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 Penetrance for gene: NPM1 were set to unknown Mode of pathogenicity for gene: NPM1 was set to Other Review for gene: NPM1 was set to GREEN