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  3. NPM1
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Radial Ray Abnormalities

Gene: NPM1

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

1 review

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

heterozygous variants cause dyskeratosis congenita phenotype
Sources: Literature
Created: 7 Jan 2020, 8:29 a.m.

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

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Jan 2020, 8:29 a.m.

Panel version: 0.1

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
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: 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

Sue White (Victorian Clinical Genetics Services)

gene: NPM1 was added gene: NPM1 was added to Radial Ray Abnormalities_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 Review for gene: NPM1 was set to GREEN gene: NPM1 was marked as current diagnostic