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Mendeliome v0.5126 COX6A2 Zornitza Stark Phenotypes for gene: COX6A2 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062
Mendeliome v0.5125 COX6A2 Zornitza Stark edited their review of gene: COX6A2: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062
Mendeliome v0.1772 COX6A2 Zornitza Stark Marked gene: COX6A2 as ready
Mendeliome v0.1772 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mendeliome v0.1772 COX6A2 Zornitza Stark Classified gene: COX6A2 as Green List (high evidence)
Mendeliome v0.1772 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mendeliome v0.1771 COX6A2 Zornitza Stark gene: COX6A2 was added
gene: COX6A2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A2 were set to 31155743; 23460811
Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, MIM# 220110
Review for gene: COX6A2 was set to GREEN
Added comment: Two unrelated families and two mouse models.
Sources: Expert list