| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Liver Failure_Paediatric v0.98 | HSD3B7 | Zornitza Stark Marked gene: HSD3B7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.98 | HSD3B7 | Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.98 | HSD3B7 | Zornitza Stark Classified gene: HSD3B7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.98 | HSD3B7 | Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.97 | HSD3B7 |
Zornitza Stark gene: HSD3B7 was added gene: HSD3B7 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD3B7 were set to 12679481; 11067870 Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1, MIM# 607765 Review for gene: HSD3B7 was set to GREEN Added comment: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most individuals show spontaneous improvement by 1 year of age. However, some may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease. More than 10 unrelated families reported. Sources: Expert list |
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