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Liver Failure_Paediatric v1.19 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Liver Failure_Paediatric v0.92 HADHB Zornitza Stark Marked gene: HADHB as ready
Liver Failure_Paediatric v0.92 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.92 HADHB Zornitza Stark Classified gene: HADHB as Green List (high evidence)
Liver Failure_Paediatric v0.92 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.91 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, MIM# 609015
Review for gene: HADHB was set to GREEN
Added comment: Trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy.
Sources: Expert list