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| Miscellaneous Metabolic Disorders v1.23 | AKR1D1 | Zornitza Stark Tag treatable tag was added to gene: AKR1D1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.34 | AKR1D1 | Bryony Thompson Phenotypes for gene: AKR1D1 were changed from Bile acid synthesis defect, congenital, 2 MIM#235555 to Bile acid synthesis defect, congenital, 2 MIM#235555; disorder of bile acid metabolism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.25 | AKR1D1 | Bryony Thompson Marked gene: AKR1D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.25 | AKR1D1 | Bryony Thompson Gene: akr1d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.25 | AKR1D1 | Bryony Thompson Classified gene: AKR1D1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.25 | AKR1D1 | Bryony Thompson Gene: akr1d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.24 | AKR1D1 |
Bryony Thompson gene: AKR1D1 was added gene: AKR1D1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1D1 were set to 12970144; 20522910; 15030995 Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2 MIM#235555 Review for gene: AKR1D1 was set to GREEN gene: AKR1D1 was marked as current diagnostic Added comment: Inborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported. Sources: NHS GMS |
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