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| Structural eye disease v4.8 | ARR3 | Sarah Leigh changed review comment from: Six ARR3 variant have been seen in seven unrelated families with Myopia 26, X-linked, female-limited, OMIM:301010. The inheritance of the causative ARR3 variants is X‐linked female limited, in that only the female carriers of the variant display the phenotype - OMIM:301010 (PMID: 35001458;33482870;27829781).; to: Six ARR3 variants have been seen in seven unrelated families with Myopia 26, X-linked, female-limited (OMIM:301010). The inheritance of the causative ARR3 variants is X‐linked female limited, in that only the female carriers of the variant display the phenotype - OMIM:301010 (PMID: 35001458;33482870;27829781). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.8 | ARR3 | Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: ARR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.8 | ARR3 | Sarah Leigh Added comment: Comment on mode of inheritance: X‐linked female limited | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.8 | ARR3 | Sarah Leigh Mode of inheritance for gene: ARR3 was changed from Other to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.7 | ARR3 | Sarah Leigh reviewed gene: ARR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.7 | ARR3 | Sarah Leigh Publications for gene: ARR3 were set to 35001458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.6 | ARR3 | Sarah Leigh Phenotypes for gene: ARR3 were changed from to Myopia 26, X-linked, female-limited, OMIM:301010; myopia 26, X-linked, female-limited, MONDO:0049221 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.5 | ARR3 | Sarah Leigh Classified gene: ARR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.5 | ARR3 | Sarah Leigh Gene: arr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.149 | ARR3 |
Dmitrijs Rots gene: ARR3 was added gene: ARR3 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: ARR3 was set to Other Publications for gene: ARR3 were set to 35001458 Penetrance for gene: ARR3 were set to unknown Review for gene: ARR3 was set to AMBER Added comment: 3 multigenerational families with X-linked dominant, female limited high myopia reported in 35001458. Each family has different trucating variant in ARR3 Sources: Literature |
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