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Mitochondrial disorders v4.99 | COX16 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: COX16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.99 | COX16 | Achchuthan Shanmugasundram commented on gene: COX16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.116 | COX16 | Arina Puzriakova Tag watchlist tag was added to gene: COX16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.116 | COX16 | Arina Puzriakova Classified gene: COX16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.116 | COX16 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber on the basis of two unrelated cases reported in literature (PMID: 33169484), although notably both harbour the same homozygous variant. Further cases would help corroborate this gene-disease association (added 'watchlist' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.116 | COX16 | Arina Puzriakova Gene: cox16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.115 | COX16 | Arina Puzriakova Publications for gene: COX16 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.114 | COX16 | Arina Puzriakova Phenotypes for gene: COX16 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355; Hypertrophic cardiomyopathy; Encephalopathy; Severe fatal lactic acidosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.113 | COX16 | Arina Puzriakova Mode of inheritance for gene: COX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.108 | COX16 |
Arina Puzriakova Source Expert Review Red was added to COX16. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Mitochondrial disorders v2.12 | COX16 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.12 | COX16 | Zornitza Stark edited their review of gene: COX16: Added comment: 2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain.; Changed rating: AMBER; Changed publications: 33169484; Changed phenotypes: Hypertrophic cardiomyopathy, encephalopathy, severe fatal lactic acidosis; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.5 | COX16 | Zornitza Stark reviewed gene: COX16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.412 | COX16 | Sarah Leigh reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.411 | COX16 |
Sarah Leigh gene: COX16 was added gene: COX16 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: COX16 was set to Unknown Phenotypes for gene: COX16 were set to No OMIM phenotype |