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| Liver Failure_Paediatric v1.25 | ABCD3 |
Leonhard Gruenschloss Source Expert list was removed from ABCD3. Source Expert Review was added to ABCD3. Mode of inheritance for gene ABCD3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Liver Failure_Paediatric v1.24 | ABCD3 | Leonhard Gruenschloss reviewed gene: ABCD3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.59 | ABCD3 | Zornitza Stark Marked gene: ABCD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.59 | ABCD3 | Zornitza Stark Gene: abcd3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.59 | ABCD3 | Zornitza Stark Classified gene: ABCD3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.59 | ABCD3 | Zornitza Stark Gene: abcd3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.58 | ABCD3 |
Zornitza Stark gene: ABCD3 was added gene: ABCD3 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: ABCD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCD3 were set to 25168382 Phenotypes for gene: ABCD3 were set to Bile acid synthesis defect, congenital, 5 (MIM#616278) Review for gene: ABCD3 was set to AMBER Added comment: Single individual reported in 2015. Evidence of a bile acid biosynthesis defect in both the affected individual and knock out mice. Sources: Expert list |
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