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Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Marked gene: ABCB11 as ready
Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Gene: abcb11 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Classified gene: ABCB11 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Gene: abcb11 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.105 ABCB11 Bryony Thompson gene: ABCB11 was added
gene: ABCB11 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB11 were set to 9806540
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2 MIM#601847; disorder of bile acid metabolism
Review for gene: ABCB11 was set to GREEN
gene: ABCB11 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). PFIC2 is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders). ABCB11 deficiency causes an inborn error of bile acid biosynthesis.
Sources: NHS GMS