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Ataxia v1.167 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Ataxia v1.167 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Ataxia v1.76 Bryony Thompson Copied gene BCKDHB from panel Episodic Ataxia
Ataxia v1.76 BCKDHB Bryony Thompson gene: BCKDHB was added
gene: BCKDHB was added to Ataxia. Sources: Expert Review Green,Expert list
treatable tags were added to gene: BCKDHB.
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