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  2. Nucleotide metabolism disorders
  3. TPMT
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Nucleotide metabolism disorders

Gene: TPMT

Red List (low evidence)
TPMT (thiopurine S-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000137364
EnsemblGeneIds (GRCh37): ENSG00000137364
OMIM: 187680, Gene2Phenotype
TPMT is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Not associated with a Mendelian disorder.
Created: 9 Apr 2022, 7:12 a.m. | Last Modified: 9 Apr 2022, 7:12 a.m.
Panel Version: 0.12804

Phenotypes
{Thiopurines, poor metabolism of, 1} 610460

Created: 9 Apr 2022, 7:12 a.m.
Last Modified: 9 Apr 2022, 7:12 a.m.
Panel version: Imported from Mendeliome panel version 0.12804

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Thiopurines, poor metabolism of, 1} 610460
OMIM
187680
Clinvar variants
Variants in TPMT
Penetrance
None
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TPMT was added gene: TPMT was added to Nucleotide metabolism disorders. Sources: Expert Review Red Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPMT were set to {Thiopurines, poor metabolism of, 1} 610460