| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.163 | GLDC | Bryony Thompson Marked gene: GLDC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.163 | GLDC | Bryony Thompson Gene: gldc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.163 | GLDC | Bryony Thompson Classified gene: GLDC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.163 | GLDC | Bryony Thompson Gene: gldc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.162 | GLDC |
Bryony Thompson gene: GLDC was added gene: GLDC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDC were set to 27604308; 2246863; 1634607 Phenotypes for gene: GLDC were set to Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism Review for gene: GLDC was set to GREEN gene: GLDC was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Glycine encephalopathy is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism. Sources: NHS GMS |
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