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| Deafness_IsolatedAndComplex v1.43 | MITF | Zornitza Stark changed review comment from: Well established gene-disease association, multiple families and animal models.; to: Waardenburg syndrome: Well established gene-disease association, multiple families and animal models. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.43 | MITF | Zornitza Stark edited their review of gene: MITF: Changed phenotypes: Waardenburg syndrome, type 2A, MIM# 193510, Deafness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.43 | MITF | Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg syndrome, type 2A, MIM# 193510 to Waardenburg syndrome, type 2A, MIM# 193510; Deafness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.42 | MITF | Zornitza Stark Publications for gene: MITF were set to 7874167; 23512835; 27759048; 28356565; 9499424; 27349893 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.41 | MITF | Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.40 | MITF | Zornitza Stark edited their review of gene: MITF: Added comment: PMID 32728090: two families reported with bi-allelic variants and isolated deafness.; Changed publications: 7874167, 23512835, 27759048, 28356565, 9499424, 27349893, 32728090; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.505 | MITF | Zornitza Stark Marked gene: MITF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.505 | MITF | Zornitza Stark Gene: mitf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.505 | MITF | Zornitza Stark Phenotypes for gene: MITF were changed from to Waardenburg syndrome, type 2A, MIM# 193510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.504 | MITF | Zornitza Stark Publications for gene: MITF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.503 | MITF | Zornitza Stark Mode of inheritance for gene: MITF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.502 | MITF | Zornitza Stark reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874167, 23512835, 27759048, 28356565, 9499424, 27349893; Phenotypes: Waardenburg syndrome, type 2A, MIM# 193510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.0 | MITF |
Zornitza Stark gene: MITF was added gene: MITF 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: MITF was set to Unknown |
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