| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.326 | GGT1 | Bryony Thompson Marked gene: GGT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.326 | GGT1 | Bryony Thompson Gene: ggt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.326 | GGT1 | Bryony Thompson Classified gene: GGT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.326 | GGT1 | Bryony Thompson Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.326 | GGT1 | Bryony Thompson Gene: ggt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.325 | GGT1 |
Bryony Thompson 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 Added comment: 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 |
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