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  3. GGT1
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Miscellaneous Metabolic Disorders

Gene: GGT1

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: Dominant form appears to be a benign metabolic condition. Currently only one recessive family reported, therefore insufficient evidence to determine clinical phenotype.
Created: 8 Feb 2021, 5:14 a.m. | Last Modified: 8 Feb 2021, 5:14 a.m.
Panel Version: 0.326
2 unrelated families segregating heterozygous variants with GGTemia, with no clinical phentoype. 2 sibs with a 16.9 kb homozygous deletion with glutathionuria and mild psychomotor developmental delay and mild neurological symptoms.
Sources: Literature
Created: 8 Feb 2021, 5:12 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Glutathioninuria MIM#231950; Disorders of the gamma-glutamyl cycle

Publications

Created: 8 Feb 2021, 5:12 a.m.

Panel version: 0.325

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Glutathioninuria MIM#231950
  • Disorders of the gamma-glutamyl cycle
Tags
SV/CNV
OMIM
612346
Clinvar variants
Variants in GGT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ggt1 has been classified as Amber List (Moderate Evidence).

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ggt1 has been classified as Amber List (Moderate Evidence).

8 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GGT1 was added gene: GGT1 was added to Miscellaneous Metabolic Disorders. Sources: Literature SV/CNV tags were added to gene: GGT1. Mode of inheritance for gene: GGT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GGT1 were set to 31520399; 27604308; 23615310; 29483667 Phenotypes for gene: GGT1 were set to Glutathioninuria MIM#231950; Disorders of the gamma-glutamyl cycle Review for gene: GGT1 was set to AMBER