Activity
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11 actions
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| Retinal disorders v7.8 | CLEC3B | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CLEC3B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | CLEC3B | Achchuthan Shanmugasundram commented on gene: CLEC3B: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.7 | CLEC3B |
Achchuthan Shanmugasundram Source NHS GMS was added to CLEC3B. Source Expert Review Green was added to CLEC3B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.22 | CLEC3B | Achchuthan Shanmugasundram Classified gene: CLEC3B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.22 | CLEC3B | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although the same variant was identified in all five reported families from the same village, this variant recapitulated human phenotypes in mouse model. Hence, this gene can be associated with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.22 | CLEC3B | Achchuthan Shanmugasundram Gene: clec3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.21 | CLEC3B | Achchuthan Shanmugasundram Phenotypes for gene: CLEC3B were changed from Macular dystrophy, retinal, 4 to Macular dystrophy, retinal, 4, OMIM:619977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.20 | CLEC3B | Achchuthan Shanmugasundram Publications for gene: CLEC3B were set to PMID: 35331648 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.19 | CLEC3B | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CLEC3B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.19 | CLEC3B | Achchuthan Shanmugasundram reviewed gene: CLEC3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35331648; Phenotypes: Macular dystrophy, retinal, 4, OMIM:619977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | CLEC3B |
Dmitrijs Rots gene: CLEC3B was added gene: CLEC3B was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: CLEC3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLEC3B were set to PMID: 35331648 Phenotypes for gene: CLEC3B were set to Macular dystrophy, retinal, 4 Review for gene: CLEC3B was set to GREEN Added comment: The study described: "5 multigenerational families diagnosed with autosomal dominant maculoretinopathy were found to carry a pathogenic variant in a new gene, CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Consistent with the disease phenotypes of patients, mice that received subretinal injections with the CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. Moreover, the optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in these mice." Sources: Literature |
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