| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.191 | HSD3B7 | Bryony Thompson Marked gene: HSD3B7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.191 | HSD3B7 | Bryony Thompson Gene: hsd3b7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.191 | HSD3B7 | Bryony Thompson Classified gene: HSD3B7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.191 | HSD3B7 | Bryony Thompson Gene: hsd3b7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.190 | HSD3B7 |
Bryony Thompson gene: HSD3B7 was added gene: HSD3B7 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD3B7 were set to 11067870; 27604308 Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1 MIM#607765; Disorders of bile acid biosynthesis Review for gene: HSD3B7 was set to GREEN gene: HSD3B7 was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Congenital bile acid synthesis defect 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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