Activity
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13 actions
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| Retinal disorders v7.8 | COQ8B |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: COQ8B. Tag Q3_24_NHS_review was removed from gene: COQ8B. |
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| Retinal disorders v7.8 | COQ8B | Achchuthan Shanmugasundram commented on gene: COQ8B: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.7 | COQ8B |
Achchuthan Shanmugasundram Source NHS GMS was added to COQ8B. Source Expert Review Green was added to COQ8B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.19 | COQ8B | Achchuthan Shanmugasundram Classified gene: COQ8B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.19 | COQ8B | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence available for the association of this gene with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.19 | COQ8B | Achchuthan Shanmugasundram Gene: coq8b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.18 | COQ8B |
Achchuthan Shanmugasundram changed review comment from: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type.; to: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type. This gene has not yet been associated with retinal phenotype either in OMIM or in Gene2Phenotype. |
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| Retinal disorders v6.18 | COQ8B | Achchuthan Shanmugasundram commented on gene: COQ8B: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.18 | COQ8B | Achchuthan Shanmugasundram Publications for gene: COQ8B were set to PMID 39226897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.17 | COQ8B | Achchuthan Shanmugasundram Phenotypes for gene: COQ8B were changed from Retinal dystrophy to Retinitis pigmentosa, MONDO:0019200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.16 | COQ8B |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: COQ8B. Tag Q3_24_NHS_review tag was added to gene: COQ8B. |
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| Retinal disorders v6.16 | COQ8B | Achchuthan Shanmugasundram reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 39226897; Phenotypes: Retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.5 | COQ8B |
Siying Lin gene: COQ8B was added gene: COQ8B was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8B were set to PMID 39226897 Phenotypes for gene: COQ8B were set to Retinal dystrophy Mode of pathogenicity for gene: COQ8B was set to Other Review for gene: COQ8B was set to GREEN Added comment: Recent publication of 4 families with non-syndromic retinal dystrophy associated with biallelic COQ8B variants, with cell-based analysis of recombinant proteins deriving from these genotypes, showing a significant decrease in ligand-protein interaction compared to the wild type. Sources: Literature |
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