| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.42 | ALDH5A1 | Bryony Thompson Marked gene: ALDH5A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.42 | ALDH5A1 | Bryony Thompson Gene: aldh5a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.42 | ALDH5A1 | Bryony Thompson Classified gene: ALDH5A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.42 | ALDH5A1 | Bryony Thompson Gene: aldh5a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.41 | ALDH5A1 |
Bryony Thompson gene: ALDH5A1 was added gene: ALDH5A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH5A1 were set to 9683595; 14635103; 32887777 Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency MIM#271980; disorder of neurotransmitter metabolism Review for gene: ALDH5A1 was set to GREEN gene: ALDH5A1 was marked as current diagnostic Added comment: Inborn error of gamma-aminobutyric acid metabolism. Well-established gene-disease association (see OMIM entry). Sources: NHS GMS |
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