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Ataxia - paediatric v0.225 ACO2 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.
Sources: Expert list; to: Ataxia is part of the phenotype, particularly in more mildly affected individuals, where it can be a presenting feature. Episodic ataxia also reported.
Sources: Expert list
Ataxia - paediatric v0.225 ACO2 Zornitza Stark edited their review of gene: ACO2: Changed publications: 32519519
Ataxia - paediatric v0.209 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Ataxia - paediatric v0.209 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.209 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration to Infantile cerebellar-retinal degeneration, MIM#614559
Ataxia - paediatric v0.0 ACO2 Bryony Thompson gene: ACO2 was added
gene: ACO2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration