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| Congenital myopathy v3.14 | COX6A2 | Eleanor Williams Tag Q3_22_rating was removed from gene: COX6A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.14 | COX6A2 | Eleanor Williams reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.13 | COX6A2 |
Eleanor Williams Source Expert Review Green was added to COX6A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v2.90 | COX6A2 | Arina Puzriakova Entity copied from Mitochondrial disorders v2.122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.90 | COX6A2 |
Arina Puzriakova gene: COX6A2 was added gene: COX6A2 was added to Congenital myopathy. Sources: Expert Review Amber,NHS GMS Q3_22_rating tags were added to gene: COX6A2. Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX6A2 were set to 23460811; 31155743; 32744742 Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 |
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