| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_Isolated v0.72 | GJB2 | Zornitza Stark Marked gene: GJB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.72 | GJB2 | Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.72 | GJB2 | Zornitza Stark Mode of pathogenicity for gene: GJB2 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.0 | GJB2 |
Zornitza Stark gene: GJB2 was added gene: GJB2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJB2 were set to 9529365; 14985372; 11354642; 19941053 Phenotypes for gene: GJB2 were set to Keratitis-ichthyosis-deafness syndrome, MIM#148210; Deafness, autosomal dominant 3A, MIM#601544; Bart-Pumphrey syndrome, MIM#149200; Vohwinkel syndrome, MIM# 124500; Deafness, autosomal recessive 1A, MIM#220290; Keratoderma, palmoplantar, with deafness, MIM#148350; Hystrix-like ichthyosis with deafness, MIM#602540 |
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