| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.328 | KHK | Bryony Thompson Marked gene: KHK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.328 | KHK | Bryony Thompson Gene: khk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.328 | KHK | Bryony Thompson Classified gene: KHK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.328 | KHK | Bryony Thompson Added comment: Comment on list classification: Likely a clinically benign condition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.328 | KHK | Bryony Thompson Gene: khk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.327 | KHK |
Bryony Thompson gene: KHK was added gene: KHK was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: KHK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KHK were set to 7833921; 27604308; 29870677 Phenotypes for gene: KHK were set to Fructosuria MIM#229800; Disorders of fructose metabolism Review for gene: KHK was set to AMBER Added comment: Single family with a non-pathogenic phenotype and a supporting mouse model Sources: Literature |
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