| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.118 | CYP27A1 | Bryony Thompson Marked gene: CYP27A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.118 | CYP27A1 | Bryony Thompson Gene: cyp27a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.118 | CYP27A1 | Bryony Thompson Classified gene: CYP27A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.118 | CYP27A1 | Bryony Thompson Gene: cyp27a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.117 | CYP27A1 |
Bryony Thompson gene: CYP27A1 was added gene: CYP27A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 2019602 Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis Review for gene: CYP27A1 was set to GREEN gene: CYP27A1 was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Cerebrotendinous xanthomatosis is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of bile acid metabolism. Sources: NHS GMS |
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