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Date	Panel	Item	Activity
Filter activities 5 actions
06 Apr 2020	Dystonia - complex v0.37	PDHA1	Bryony Thompson Marked gene: PDHA1 as ready
06 Apr 2020	Dystonia - complex v0.37	PDHA1	Bryony Thompson Gene: pdha1 has been classified as Green List (High Evidence).
06 Apr 2020	Dystonia - complex v0.37	PDHA1	Bryony Thompson Classified gene: PDHA1 as Green List (high evidence)
06 Apr 2020	Dystonia - complex v0.37	PDHA1	Bryony Thompson Gene: pdha1 has been classified as Green List (High Evidence).
06 Apr 2020	Dystonia - complex v0.36	PDHA1	Bryony Thompson gene: PDHA1 was added gene: PDHA1 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDHA1 were set to 20002125 Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 Review for gene: PDHA1 was set to GREEN Added comment: At least four cases reported with dystonia as a feature of the condition. Sources: Literature