1. Panels
  2. Haematological malignancies cancer susceptibility
  3. NAPRT
STRs in panel
Prev Next
Regions in panel
Prev Next

Haematological malignancies cancer susceptibility

Gene: NAPRT

Amber List (moderate evidence)
NAPRT (nicotinate phosphoribosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000147813
EnsemblGeneIds (GRCh37): ENSG00000147813
OMIM: 611552, Gene2Phenotype
NAPRT is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Two monoallelic NAPRT variants have been reported in two unrelated cases with myelodysplastic syndrome (MDS) / acute myeloid leukemia (AML)(PMID: 32098966; https://doi.org/10.1182/blood.V122.21.2803.2803) This is insufficient evidence to warrant a green gene rating.
Created: 12 May 2025, 2:42 p.m. | Last Modified: 12 May 2025, 2:42 p.m.
Panel Version: 4.18
Comment on publications: https://doi.org/10.1182/blood.V122.21.2803.2803 there is no PMID for this article
Created: 7 May 2025, 4:48 p.m. | Last Modified: 7 May 2025, 4:48 p.m.
Panel Version: 4.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
myelodysplastic syndrome (MDS); acute myeloid leukemia (AML)

Created: 7 May 2025, 4:48 p.m.
Last Modified: 7 May 2025, 4:48 p.m.
Panel version: 4.19

Lauma Freimane (Children's Clinical University Hospital)

Green List (high evidence)

Sources: Literature
Created: 19 Jun 2023, 1:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MDS/AML; inherited bone marrow failure series

Publications

Created: 19 Jun 2023, 1:10 p.m.

Panel version: 4.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Amber
Phenotypes
  • MDS/AML
  • inherited bone marrow failure series
OMIM
611552
Clinvar variants
Variants in NAPRT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2025, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: NAPRT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

12 May 2025, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: NAPRT was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 May 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: naprt has been classified as Amber List (Moderate Evidence).

7 May 2025, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NAPRT were set to 32098966

19 Jun 2023, Gel status: 0

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

Lauma Freimane (Children's Clinical University Hospital)

gene: NAPRT was added gene: NAPRT was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: NAPRT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAPRT were set to 32098966 Phenotypes for gene: NAPRT were set to MDS/AML; inherited bone marrow failure series Review for gene: NAPRT was set to GREEN