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Mitochondrial disorder with complex IV deficiency v4.9 COX18 Achchuthan Shanmugasundram Classified gene: COX18 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v4.9 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 disorder with complex IV deficiency v4.9 COX18 Achchuthan Shanmugasundram Gene: cox18 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v4.8 COX18 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: COX18.
Mitochondrial disorder with complex IV deficiency v4.8 COX18 Achchuthan Shanmugasundram Phenotypes for gene: COX18 were changed from No OMIM phenotype to mitochondrial disease, MONDO:0044970; Charcot-Marie-Tooth disease, MONDO:0015626
Mitochondrial disorder with complex IV deficiency v4.7 COX18 Achchuthan Shanmugasundram Publications for gene: COX18 were set to
Mitochondrial disorder with complex IV deficiency v4.6 COX18 Achchuthan Shanmugasundram Mode of inheritance for gene: COX18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v4.5 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 disorder with complex IV deficiency v3.17 COX18 Arina Puzriakova Classified gene: COX18 as Red List (low evidence)
Mitochondrial disorder with complex IV deficiency v3.17 COX18 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Mitochondrial disorder with complex IV deficiency v3.17 COX18 Arina Puzriakova Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX18 Ellen McDonagh Marked gene: COX18 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX18 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.31 COX18 Carl Fratter reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Classified gene: COX18 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.3 COX18 Ivone Leong reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.2 COX18 Ivone Leong gene: COX18 was added
gene: COX18 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX18 was set to Unknown
Phenotypes for gene: COX18 were set to No OMIM phenotype