| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Miscellaneous Metabolic Disorders v0.36 | ALDH18A1 |
Bryony Thompson changed review comment from: Well-established gene-disease association. Certain types of disease-causing variants alter proline/ornithine metabolism. Sources: NHS GMS; to: Well-established gene-disease association (see OMIM). Certain types of disease-causing variants alter proline/ornithine metabolism. Sources: NHS GMS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.36 | ALDH18A1 | Bryony Thompson Marked gene: ALDH18A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.36 | ALDH18A1 | Bryony Thompson Gene: aldh18a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.36 | ALDH18A1 | Bryony Thompson Classified gene: ALDH18A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.36 | ALDH18A1 | Bryony Thompson Gene: aldh18a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.35 | ALDH18A1 |
Bryony Thompson gene: ALDH18A1 was added gene: ALDH18A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to 32221810; 11092761; 29754261; 26026163 Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism Review for gene: ALDH18A1 was set to GREEN gene: ALDH18A1 was marked as current diagnostic Added comment: Well-established gene-disease association. Certain types of disease-causing variants alter proline/ornithine metabolism. Sources: NHS GMS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||