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Early onset dystonia v1.72 DLAT Eleanor Williams Phenotypes for gene: DLAT were changed from Dystonia to episodic dystonia; pyruvate dehydrogenase deficiency; Pyruvate dehydrogenase E2 deficiency
Early onset dystonia v1.71 DLAT Eleanor Williams Publications for gene: DLAT were set to
Early onset dystonia v1.70 DLAT Eleanor Williams Mode of inheritance for gene: DLAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset dystonia v1.69 DLAT Eleanor Williams Classified gene: DLAT as Green List (high evidence)
Early onset dystonia v1.69 DLAT Eleanor Williams Added comment: Comment on list classification: 3 unrelated cases with plausible disease causing variants in the DLAT gene. All cases show dystonia in childhood.
Early onset dystonia v1.69 DLAT Eleanor Williams Gene: dlat has been classified as Green List (High Evidence).
Early onset dystonia v1.68 DLAT Eleanor Williams commented on gene: DLAT
Early onset dystonia v1.68 DLAT Chris Buxton reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 20022530, 16049940; Phenotypes: episodic dystonia, pyruvate dehydrogenase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal