Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: GGT1

Red List (low evidence)

GGT1 (gamma-glutamyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000100031
EnsemblGeneIds (GRCh37): ENSG00000100031
OMIM: 612346, Gene2Phenotype
GGT1 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on publications: 23615310 (knockout model)
Created: 27 Feb 2017, 11:14 a.m.

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Associated with Gamma-glutamyl transpeptidase deficiency in Orphanet. Not reported with a disease in OMIM or Gene2Phenotype, and literature search did not reveal a case reported with the deficiency directly caused by genetic variants in this gene.
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
Unknown

Phenotypes
Gamma-glutamyl transpeptidase deficiency

Publications

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Gamma-glutamyl transpeptidase deficiency
  • Glutathionuria (Disorders of the gamma-glutamyl cycle)
OMIM
612346
Clinvar variants
Variants in GGT1
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 GGT1. Source London North GLH was added to GGT1.

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: GGT1 was added gene: GGT1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GGT1 was set to Unknown Publications for gene: GGT1 were set to 27604308; 24816252 Phenotypes for gene: GGT1 were set to Gamma-glutamyl transpeptidase deficiency; Glutathionuria (Disorders of the gamma-glutamyl cycle)