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Hereditary Neuropathy - complex v0.135 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Hereditary Neuropathy - complex v0.25 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Hereditary Neuropathy - complex v0.25 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.25 BCKDHB Zornitza Stark Classified gene: BCKDHB as Green List (high evidence)
Hereditary Neuropathy - complex v0.25 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.24 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy
Review for gene: BCKDHB was set to GREEN
Added comment: Sources: NHS GMS