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  3. NUDT15
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Transplant Co-Morbidity Superpanel

Gene: NUDT15

Green List (high evidence)
NUDT15 (nudix hydrolase 15)
EnsemblGeneIds (GRCh38): ENSG00000136159
EnsemblGeneIds (GRCh37): ENSG00000136159
OMIM: 615792, Gene2Phenotype
NUDT15 is in 2 panels

1 review

Claire Fryer-Smith (University of Melbourne)

Green List (high evidence)

It is involved in guidelines for thiopurines including mercaptopurine and azathioprine.

https://www.pharmgkb.org/gene/PA134963132

Pathogenic variants in NUDT15 result in poor metabolism of thiopurines that was significantly associated with thiopurine-induced leukopenia. The NUDT15 deficiency trait follows an additive genetic mode of inheritance, with the severity of the phenotype proportional to the cumulative number of risk alleles in NUDT15.

Mechanistically, NUDT15 inactivated thiopurine metabolites and decreased thiopurine cytotoxicity in vitro, and patients with defective NUDT15 alleles showed excessive levels of thiopurine active metabolites and toxicity. (PMID: 26878724).
Sources: Expert list
Created: 25 Aug 2023, 12:45 a.m.

Mode of inheritance
Other

Phenotypes
Thiopurines, poor metabolism of, 2 MIM# 616903

Publications

Created: 25 Aug 2023, 12:45 a.m.

Panel version: 0.4

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
Phenotypes
  • Thiopurines, poor metabolism of, 2 MIM# 616903
OMIM
615792
Clinvar variants
Variants in NUDT15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nudt15 has been classified as Green List (High Evidence).

28 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nudt15 has been classified as Green List (High Evidence).

25 Aug 2023, Gel status: 0

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

Claire Fryer-Smith (University of Melbourne)

gene: NUDT15 was added gene: NUDT15 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list Mode of inheritance for gene: NUDT15 was set to Other Publications for gene: NUDT15 were set to 26878724 Phenotypes for gene: NUDT15 were set to Thiopurines, poor metabolism of, 2 MIM# 616903 Review for gene: NUDT15 was set to GREEN