| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.44 | ALDH6A1 | Bryony Thompson Marked gene: ALDH6A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.44 | ALDH6A1 | Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.44 | ALDH6A1 | Bryony Thompson Classified gene: ALDH6A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.44 | ALDH6A1 | Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.43 | ALDH6A1 |
Bryony Thompson gene: ALDH6A1 was added gene: ALDH6A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH6A1 were set to 32151545; 10947204; 21863277; 23835272 Phenotypes for gene: ALDH6A1 were set to Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105; disorder of valine and pyrimidine metabolism Review for gene: ALDH6A1 was set to GREEN gene: ALDH6A1 was marked as current diagnostic Added comment: At least 5 unrelated cases reported. Inborn error of valine and pyrimidine catabolism. Sources: NHS GMS |
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