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| Structural eye disease v1.132 | WRAP73 | Ivone Leong Classified gene: WRAP73 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.132 | WRAP73 | Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red based on Expert review by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.132 | WRAP73 | Ivone Leong Gene: wrap73 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.131 | WRAP73 | Ivone Leong Publications for gene: WRAP73 were set to PMID: 33693649 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | WRAP73 | Nicola Ragge reviewed gene: WRAP73: Rating: RED; Mode of pathogenicity: ; Publications: 33693649; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.69 | WRAP73 |
Catherine Snow changed review comment from: Four individuals in two unrelated Indian families homozygous for missense variant c.1148C > T (p.Pro383Leu) in WRAP73 (old gene symbol WDR8) and reported to have Microspherophakia. Functional studies in Zebrafish showed knockout mutants and knockdown morphants exhibit decreased eye size. Amber rating as although functional evidence as new gene disease association with one missense. Sources: Literature; to: Four individuals in two unrelated Indian families homozygous for missense variant c.1148C > T (p.Pro383Leu) in WRAP73 (old gene symbol WDR8) and reported to have Microspherophakia. Functional studies in Zebrafish showed knockout mutants and knockdown morphants exhibit decreased eye size. Amber rating as although functional evidence this is a new gene disease association with just one missense variant. Sources: Literature |
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| Structural eye disease v1.69 | WRAP73 | Catherine Snow Classified gene: WRAP73 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.69 | WRAP73 | Catherine Snow Gene: wrap73 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.68 | WRAP73 |
Catherine Snow gene: WRAP73 was added gene: WRAP73 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: WRAP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP73 were set to PMID: 33693649 Phenotypes for gene: WRAP73 were set to Microspherophakia Review for gene: WRAP73 was set to AMBER Added comment: Four individuals in two unrelated Indian families homozygous for missense variant c.1148C > T (p.Pro383Leu) in WRAP73 (old gene symbol WDR8) and reported to have Microspherophakia. Functional studies in Zebrafish showed knockout mutants and knockdown morphants exhibit decreased eye size. Amber rating as although functional evidence as new gene disease association with one missense. Sources: Literature |
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