| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.102 | ATP8B1 | Bryony Thompson Marked gene: ATP8B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.102 | ATP8B1 | Bryony Thompson Gene: atp8b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.102 | ATP8B1 | Bryony Thompson Classified gene: ATP8B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.102 | ATP8B1 | Bryony Thompson Gene: atp8b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.101 | ATP8B1 |
Bryony Thompson gene: ATP8B1 was added gene: ATP8B1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8B1 were set to 9500542 Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 MIM#211600; disorder of bile acid metabolism Review for gene: ATP8B1 was set to GREEN Added comment: Well-established gene-disease association (see OMIM entry). ATP8B1 deficiency can cause bile acid synthesis defects. Sources: NHS GMS |
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