Miscellaneous Metabolic Disorders
Gene: GGT1
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: LiteratureCreated: 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
Gene: ggt1 has been classified as Amber List (Moderate Evidence).
Gene: ggt1 has been classified as Amber List (Moderate Evidence).
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