| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v1.56 | ABCB4 |
Chirag Patel Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism to Progressive familial intrahepatic cholestasis type 3, MONDO:0011214 Publications for gene ABCB4 were changed from 8666348, 9419367, 26474921, 32793533, 11313315 to 8666348, 9419367, 26474921, 32793533, 11313315 |
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| Miscellaneous Metabolic Disorders v0.108 | ABCB4 | Bryony Thompson Marked gene: ABCB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.108 | ABCB4 | Bryony Thompson Gene: abcb4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.108 | ABCB4 | Bryony Thompson Classified gene: ABCB4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.108 | ABCB4 | Bryony Thompson Gene: abcb4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.107 | ABCB4 |
Bryony Thompson gene: ABCB4 was added gene: ABCB4 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCB4 were set to 8666348 Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism Review for gene: ABCB4 was set to GREEN gene: ABCB4 was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). PFIC3 is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders). ABCB4 deficiency causes an inborn error of bile acid biosynthesis. Sources: NHS GMS |
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