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Dystonia - complex v0.102 PDHX Zornitza Stark Marked gene: PDHX as ready
Dystonia - complex v0.102 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Dystonia - complex v0.35 PDHX Bryony Thompson Classified gene: PDHX as Green List (high evidence)
Dystonia - complex v0.35 PDHX Bryony Thompson Gene: pdhx has been classified as Green List (High Evidence).
Dystonia - complex v0.34 PDHX Bryony Thompson gene: PDHX was added
gene: PDHX was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHX were set to 20002125; 16566017; 17152059
Phenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency MIM#245349
Review for gene: PDHX was set to GREEN
Added comment: At least four cases reported with dystonia as a feature of the condition.
Sources: Expert list