Activity
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16 actions
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| Structural eye disease v4.40 | ARR3 | Eleanor Williams Tag x-linked-over-dominance tag was added to gene: ARR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.40 | ARR3 | Eleanor Williams Tag Q2_25_ promote_green was removed from gene: ARR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.40 | ARR3 | Eleanor Williams Added comment: Comment on mode of inheritance: Note: this gene is linked to a condition that presents in females only, although hemizygous variants in males may also be prioritised with this mode of inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.40 | ARR3 | Eleanor Williams Mode of inheritance for gene: ARR3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.39 | ARR3 | Eleanor Williams reviewed gene: ARR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.38 | ARR3 |
Eleanor Williams Source NHS GMS was added to ARR3. Source Expert Review Green was added to ARR3. Mode of inheritance for gene ARR3 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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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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