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Mitochondrial disorders v9.50 COQ5 Ida Ertmanska Phenotypes for gene: COQ5 were changed from No OMIM phenotype to ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028; mitochondrial disease, MONDO:0044970
Mitochondrial disorders v9.49 COQ5 Ida Ertmanska Publications for gene: COQ5 were set to 29044765
Mitochondrial disorders v9.48 COQ5 Ida Ertmanska changed review comment from: Comment on list classification: There are now more than 3 unrelated families reported with biallelic COQ5 variants and mitchondrial disease (COQ5-related primary CoQ10 deficiency). Hence, this gene should be promoted to Green at the next GMS update.; to: Comment on list classification: There are now more than 3 unrelated families reported with biallelic COQ5 variants and mitochondrial disease (COQ5-related primary CoQ10 deficiency). Hence, this gene should be promoted to Green at the next GMS update.
Mitochondrial disorders v9.48 COQ5 Ida Ertmanska Classified gene: COQ5 as Amber List (moderate evidence)
Mitochondrial disorders v9.48 COQ5 Ida Ertmanska Added comment: Comment on list classification: There are now more than 3 unrelated families reported with biallelic COQ5 variants and mitchondrial disease (COQ5-related primary CoQ10 deficiency). Hence, this gene should be promoted to Green at the next GMS update.
Mitochondrial disorders v9.48 COQ5 Ida Ertmanska Gene: coq5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v9.47 COQ5 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: COQ5.
Mitochondrial disorders v9.47 COQ5 Ida Ertmanska reviewed gene: COQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29044765, 36266294, 37599337, 41199775; Phenotypes: ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028, mitochondrial disease, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.109 COQ5 Arina Puzriakova commented on gene: COQ5
Mitochondrial disorders v2.108 COQ5 Arina Puzriakova Source Expert Review Red was added to COQ5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.5 COQ5 Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.412 COQ5 Sarah Leigh reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.411 COQ5 Sarah Leigh gene: COQ5 was added
gene: COQ5 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 29044765
Phenotypes for gene: COQ5 were set to No OMIM phenotype