| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.201 | LCT | Bryony Thompson Marked gene: LCT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.201 | LCT | Bryony Thompson Gene: lct has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.201 | LCT | Bryony Thompson Classified gene: LCT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.201 | LCT | Bryony Thompson Gene: lct has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.200 | LCT |
Bryony Thompson gene: LCT was added gene: LCT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCT were set to 9758622; 27604308 Phenotypes for gene: LCT were set to Lactase deficiency, congenital MIM#223000; Other carbohydrate disorders Review for gene: LCT was set to GREEN gene: LCT was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Lactase deficiency 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 carbohydrate metabolism. Sources: NHS GMS |
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