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Mitochondrial disease v0.205 COA7 Zornitza Stark Marked gene: COA7 as ready
Mitochondrial disease v0.205 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.93 COA7 Bryony Thompson Classified gene: COA7 as Green List (high evidence)
Mitochondrial disease v0.93 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.92 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 30885959; 29718187
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: COA7 is involved in the assembly of mitochondrial complex IV, which is the terminal component of the mitochondrial respiratory chain. >3 unrelated cases have been reported with the neurological condition.
Sources: Expert list