| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.157 | GCLC | Bryony Thompson Marked gene: GCLC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.157 | GCLC | Bryony Thompson Gene: gclc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.157 | GCLC | Bryony Thompson Classified gene: GCLC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.157 | GCLC | Bryony Thompson Gene: gclc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.156 | GCLC |
Bryony Thompson gene: GCLC was added gene: GCLC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCLC were set to 27604308; 10515893; 18024385; 11118286; 10733484; 12663448 Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450; Disorders of the gamma-glutamyl cycle Review for gene: GCLC was set to GREEN gene: GCLC was marked as current diagnostic Added comment: At least 9 cases reported and a mouse model. GCLC deficiency is an inborn error of amino acid and peptide metabolism. Sources: NHS GMS |
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