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Mitochondrial disorders v9.31 COX18 Achchuthan Shanmugasundram Classified gene: COX18 as Amber List (moderate evidence)
Mitochondrial disorders v9.31 COX18 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated families and functional studies) for the promotion of this gene to green rating in the next GMS update.
Mitochondrial disorders v9.31 COX18 Achchuthan Shanmugasundram Gene: cox18 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v9.30 COX18 Achchuthan Shanmugasundram Phenotypes for gene: COX18 were changed from 37468577; 40830826 to mitochondrial disease, MONDO:0044970; Charcot-Marie-Tooth disease, MONDO:0015626
Mitochondrial disorders v9.29 COX18 Achchuthan Shanmugasundram Phenotypes for gene: COX18 were changed from No OMIM phenotype to 37468577; 40830826
Mitochondrial disorders v9.28 COX18 Achchuthan Shanmugasundram Publications for gene: COX18 were set to
Mitochondrial disorders v9.27 COX18 Achchuthan Shanmugasundram Mode of inheritance for gene: COX18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v9.26 COX18 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: COX18.
Mitochondrial disorders v9.26 COX18 Achchuthan Shanmugasundram reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 37468577, 40830826; Phenotypes: mitochondrial disease, MONDO:0044970, Charcot-Marie-Tooth disease, MONDO:0015626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.109 COX18 Arina Puzriakova commented on gene: COX18
Mitochondrial disorders v2.108 COX18 Arina Puzriakova Source Expert Review Red was added to COX18.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.5 COX18 Zornitza Stark reviewed gene: COX18: Rating: RED; Mode of pathogenicity: None; Publications: 19373256; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v1.412 COX18 Sarah Leigh reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.411 COX18 Sarah Leigh gene: COX18 was added
gene: COX18 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX18 was set to Unknown
Phenotypes for gene: COX18 were set to No OMIM phenotype