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Pharmacogenomics_Paediatric

Gene: TPMT

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

2 reviews

David Metz (Royal Children's Hospital)

In newborn infants, peripheral blood TPMT activity is 50% greater than in race-matched adults and shows a distribution of activity consistent with the polymorphism characterized in adults.
Created: 23 Aug 2020, 3:32 a.m. | Last Modified: 23 Aug 2020, 3:32 a.m.
Panel Version: 0.49
Azathioprine; Mercaptopurine; Thioguanines
Created: 14 Aug 2020, 4:32 a.m. | Last Modified: 14 Aug 2020, 4:32 a.m.
Panel Version: 0.33
Created: 14 Aug 2020, 4:32 a.m.
Last Modified: 14 Aug 2020, 4:32 a.m.
Panel version: 0.49

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 31 Jul 2020, 10:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine

Publications

Created: 31 Jul 2020, 10:10 a.m.

Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • {Thiopurines, poor metabolism of, 1}, MIM# 610460
  • Azathioprine
  • Mercaptopurine
  • Thioguanines
OMIM
187680
Clinvar variants
Variants in TPMT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TPMT were changed from {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine; Thioguanines

1 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TPMT were set to

1 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TPMT were changed from {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPMT was added gene: TPMT was added to Pharmacogenomics_Paediatric. Sources: Expert list 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}, MIM# 610460; Azathioprine Review for gene: TPMT was set to GREEN