Activity

Filter

Cancel
Date Panel Item Activity
20 actions
Possible mitochondrial disorder - nuclear genes v4.12 COX18 Achchuthan Shanmugasundram Classified gene: COX18 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v4.12 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.
Possible mitochondrial disorder - nuclear genes v4.12 COX18 Achchuthan Shanmugasundram Gene: cox18 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v4.11 COX18 Achchuthan Shanmugasundram Publications for gene: COX18 were set to
Possible mitochondrial disorder - nuclear genes v4.10 COX18 Achchuthan Shanmugasundram Phenotypes for gene: COX18 were changed from No OMIM phenotype to mitochondrial disease, MONDO:0044970; Charcot-Marie-Tooth disease, MONDO:0015626
Possible mitochondrial disorder - nuclear genes v4.9 COX18 Achchuthan Shanmugasundram Mode of inheritance for gene: COX18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v4.8 COX18 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: COX18.
Possible mitochondrial disorder - nuclear genes v4.8 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
Possible mitochondrial disorder - nuclear genes v3.99 COX18 Arina Puzriakova Classified gene: COX18 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.99 COX18 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Possible mitochondrial disorder - nuclear genes v3.99 COX18 Arina Puzriakova Gene: cox18 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX18 Ellen McDonagh Marked gene: COX18 as ready
Possible mitochondrial disorder - nuclear genes v0.148 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.
Possible mitochondrial disorder - nuclear genes v0.148 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.134 COX18 Carl Fratter reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.92 COX18 Ellen McDonagh Classified gene: COX18 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.92 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 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.92 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.5 COX18 Ivone Leong reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.2 COX18 Ivone Leong gene: COX18 was added
gene: COX18 was added to Possible mitochondrial disorder - nuclear genes. 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