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Dystonia - complex v0.217 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Dystonia - complex v0.111 PCCB Zornitza Stark Marked gene: PCCB as ready
Dystonia - complex v0.111 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Dystonia - complex v0.111 PCCB Zornitza Stark Classified gene: PCCB as Green List (high evidence)
Dystonia - complex v0.111 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Dystonia - complex v0.110 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCB were set to 30879957
Phenotypes for gene: PCCB were set to Propionicacidemia, MIM# 606054
Review for gene: PCCB was set to GREEN
Added comment: The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults is pertinent to this panel as it has a milder phenotype. It is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy.
Sources: Expert list