| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v1.23 | GALK1 | Zornitza Stark Tag treatable tag was added to gene: GALK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.147 | GALK1 | Bryony Thompson Marked gene: GALK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.147 | GALK1 | Bryony Thompson Gene: galk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.147 | GALK1 | Bryony Thompson Classified gene: GALK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.147 | GALK1 | Bryony Thompson Gene: galk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.146 | GALK1 |
Bryony Thompson gene: GALK1 was added gene: GALK1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALK1 were set to 27604308; 5129682 Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts MIM#230200; Disorders of galactose metabolism Review for gene: GALK1 was set to GREEN gene: GALK1 was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Galactokinase 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 galactose metabolism. Sources: NHS GMS |
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