| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Miscellaneous Metabolic Disorders v0.40 | ALDH4A1 | Bryony Thompson Marked gene: ALDH4A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.40 | ALDH4A1 | Bryony Thompson Gene: aldh4a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.40 | ALDH4A1 | Bryony Thompson Classified gene: ALDH4A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.40 | ALDH4A1 | Bryony Thompson Gene: aldh4a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.39 | ALDH4A1 |
Bryony Thompson gene: ALDH4A1 was added gene: ALDH4A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH4A1 were set to 9700195; 31884946 Phenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism Review for gene: ALDH4A1 was set to GREEN gene: ALDH4A1 was marked as current diagnostic Added comment: At least 4 unrelated cases reported. Biallelic variants cause an inborn error or ornithine/proline metabolism. Sources: NHS GMS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||