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Deafness_IsolatedAndComplex v0.386 | COL9A1 | Teresa Zhao Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.386 | COL9A1 | Teresa Zhao reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16909383, 2142186, 11565064; Phenotypes: Stickler syndrome, type IV (MIM#614134) AR, ?Multiple epiphyseal dysplasia 6 (MIM#614135) AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.274 | COL9A1 | Zornitza Stark Marked gene: COL9A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.274 | COL9A1 | Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.274 | COL9A1 | Zornitza Stark Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM#614134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.273 | COL9A1 | Zornitza Stark Mode of inheritance for gene: COL9A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.272 | COL9A1 | Zornitza Stark reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type IV, MIM#614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.0 | COL9A1 |
Zornitza Stark gene: COL9A1 was added gene: COL9A1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: COL9A1 was set to Unknown |