| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.128 | DHODH | Bryony Thompson Marked gene: DHODH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.128 | DHODH | Bryony Thompson Gene: dhodh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.128 | DHODH | Bryony Thompson Classified gene: DHODH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.128 | DHODH | Bryony Thompson Gene: dhodh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.127 | DHODH |
Bryony Thompson gene: DHODH was added gene: DHODH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHODH were set to 19915526 Phenotypes for gene: DHODH were set to Miller syndrome MIM#263750; Disorders of pyrimidine metabolism Review for gene: DHODH was set to GREEN gene: DHODH was marked as current diagnostic Added comment: >3 cases reported. Biallelic variants cause an inborn error of pyrimidine metabolism. Sources: NHS GMS |
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