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| Miscellaneous Metabolic Disorders v0.120 | CYP7B1 | Bryony Thompson Marked gene: CYP7B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.120 | CYP7B1 | Bryony Thompson Gene: cyp7b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.120 | CYP7B1 | Bryony Thompson Classified gene: CYP7B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.120 | CYP7B1 | Bryony Thompson Gene: cyp7b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.119 | CYP7B1 |
Bryony Thompson gene: CYP7B1 was added gene: CYP7B1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to 9802883; 18252231; 31337596 Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3 MIM#613812; Spastic paraplegia 5A, autosomal recessive MIM#270800; Disorders of bile acid biosynthesis Review for gene: CYP7B1 was set to GREEN gene: CYP7B1 was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). CYP7B1 deficiency can cause an inborn error of bile acid metabolism. Sources: NHS GMS |
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