| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.297 | TTPA | Bryony Thompson Marked gene: TTPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.297 | TTPA | Bryony Thompson Gene: ttpa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.297 | TTPA | Bryony Thompson Classified gene: TTPA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.297 | TTPA | Bryony Thompson Gene: ttpa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.296 | TTPA |
Bryony Thompson gene: TTPA was added gene: TTPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTPA were set to 27604308; 7719340 Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency MIM#277460; disorders of vitamins and cofactors Review for gene: TTPA was set to GREEN gene: TTPA was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Ataxia with vitamin E deficiency (AVED) 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 vitamin metabolism. Sources: NHS GMS |
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