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| Stickler Syndrome v1.4 | COL9A3 | Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome, AR; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD to Stickler syndrome, type VI, MIM# 620022; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.3 | COL9A3 | Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022, Deafness, AD, Peripheral vitreoretinal degeneration and retinal detachment, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.3 | COL9A3 |
Zornitza Stark changed review comment from: Note mono-allelic variants have been associated with isolated deafness and retinal phenotypes which overlap with Stickler syndrome.; to: Note mono-allelic variants have been associated with isolated deafness and retinal phenotypes which overlap with Stickler syndrome. However, of the two families with isolated retinal phenotype, one of the variants reported has a high population frequency, not compatible with a monogenic disorder, PMID 33633367. |
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| Stickler Syndrome v1.3 | COL9A3 | Zornitza Stark Phenotypes for gene: COL9A3 were changed from sensorineural hearing loss; midface hypoplasia; Stickler syndrome; myopia to Stickler syndrome, AR; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.2 | COL9A3 | Zornitza Stark Publications for gene: COL9A3 were set to 31090205; 30450842; 20301479; 24273071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.1 | COL9A3 | Zornitza Stark Mode of inheritance for gene: COL9A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.0 | 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 v0.1 | COL9A3 | Zornitza Stark Marked gene: COL9A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v0.1 | COL9A3 | Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v0.0 | COL9A3 |
Alison Yeung gene: COL9A3 was added gene: COL9A3 was added to Stickler Syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A3 were set to 31090205; 30450842; 20301479; 24273071 Phenotypes for gene: COL9A3 were set to sensorineural hearing loss; midface hypoplasia; Stickler syndrome; myopia |
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