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Episodic Ataxia v0.23 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Classified gene: BCKDHB as Green List (high evidence)
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Episodic Ataxia v0.16 BCKDHB Eunice Chan gene: BCKDHB was added
gene: BCKDHB was added to Episodic Ataxia. Sources: Expert list
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHB were set to PMID 32151765
Phenotypes for gene: BCKDHB were set to Episodic ataxia during metabolic crises; paroxysmal nonkinesigenic dyskinesia
Added comment: Intermediate/intermittent maple syrup urine disease
Sources: Expert list