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Inborn errors of metabolism

Gene: TPMT

Red List (low evidence)

TPMT (thiopurine S-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000137364
EnsemblGeneIds (GRCh37): ENSG00000137364
OMIM: 187680, Gene2Phenotype
TPMT is in 2 panels

1 review

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Although this is an establised pharmacogenetic phenomenon (haematopoetic toxicity with standard does of antineoplastic drugs 6MP, 6TG or immunosuppression with Azathioprine), this is not green as not considered a phenotype that will present via metabolic clinic and will only manifest with use of certain treatments
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{Thiopurines, poor metabolism of, 1} 610460

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism)
  • {Thiopurines, poor metabolism of, 1} 610460
OMIM
187680
Clinvar variants
Variants in TPMT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TPMT. Source London North GLH was added to TPMT.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TPMT was added gene: TPMT was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPMT were set to 27604308 Phenotypes for gene: TPMT were set to Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism); {Thiopurines, poor metabolism of, 1} 610460