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| Stickler syndrome v2.18 | COL9A3 | Ivone Leong changed review comment from: Comment on mode of inheritance: As there are currently only 2 unrelated cases of autosomal dominant COL9A3 associated with peripheral vitreoretinal degeneration and retinal detachment, the MOI will be kept as "Biallelic" until more evidence is available.; to: Comment on mode of inheritance: As there are currently only 2 unrelated cases of autosomal dominant COL9A3 variant associated with peripheral vitreoretinal degeneration and retinal detachment, the MOI will be kept as "Biallelic" until more evidence is available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.18 | COL9A3 | Ivone Leong changed review comment from: Comment on mode of inheritance: As there are currently only 2 unrelated cases of autosomal dominant COL9A3 associated with Stickler syndrome, the MOI will be kept as "Biallelic" until more evidence is available.; to: Comment on mode of inheritance: As there are currently only 2 unrelated cases of autosomal dominant COL9A3 associated with peripheral vitreoretinal degeneration and retinal detachment, the MOI will be kept as "Biallelic" until more evidence is available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.18 | COL9A3 | Ivone Leong Added comment: Comment on mode of inheritance: As there are currently only 2 unrelated cases of autosomal dominant COL9A3 associated with Stickler syndrome, the MOI will be kept as "Biallelic" until more evidence is available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.18 | COL9A3 | Ivone Leong Mode of inheritance for gene: COL9A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.17 | COL9A3 | Ivone Leong Publications for gene: COL9A3 were set to 24273071 and unpublished observation; 30450842 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.16 | COL9A3 | Zornitza Stark reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: Stickler syndrome, AR, Deafness, AD, Peripheral vitreoretinal degeneration and retinal detachment, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.12 | COL9A3 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Stickler syndrome type VI, Mutiple Epiphyseal Dysplasia |
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| Stickler syndrome v2.12 | COL9A3 | Ivone Leong Phenotypes for gene: COL9A3 were changed from Stickler syndrome type VI; Mutiple Epiphyseal Dysplasia to Stickler syndrome, MONDO:0019354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v1.27 | COL9A3 | Anna de Burca Classified gene: COL9A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v1.27 | COL9A3 | Anna de Burca Gene: col9a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v1.26 | COL9A3 | Ivone Leong Publications for gene: COL9A3 were set to 24273071 and unpublished observation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v1.25 | COL9A3 | Anna de Burca reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30450842; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||