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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 |