| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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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