Likely inborn error of metabolism
Gene: TPMT

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

27604308

Created: 23 Feb 2017, 5:16 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Red

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

27604308

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