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| Deafness_Isolated v1.28 | CCDC50 | Zornitza Stark Classified gene: CCDC50 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.28 | CCDC50 | Zornitza Stark Gene: ccdc50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.27 | CCDC50 | Zornitza Stark changed review comment from: PMID 24875298: Segregation in 4 individuals. However, p.Arg76His is present in 75 hets in gnomad.; to: PMID 24875298 reviewed: Segregation in 4 individuals in one family with deafness. However, p.Arg76His is present in 75 hets in gnomad. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.27 | CCDC50 | Zornitza Stark edited their review of gene: CCDC50: Added comment: PMID 24875298: Segregation in 4 individuals. However, p.Arg76His is present in 75 hets in gnomad.; Changed rating: AMBER; Changed publications: 24875298; Changed phenotypes: Deafness, autosomal dominant 44 , MIM# 607453; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.30 | CCDC50 | Zornitza Stark Marked gene: CCDC50 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.30 | CCDC50 | Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.30 | CCDC50 | Zornitza Stark Publications for gene: CCDC50 were set to 24875298; 27911912; 17503326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.0 | CCDC50 |
Zornitza Stark gene: CCDC50 was added gene: CCDC50 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCDC50 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCDC50 were set to 24875298; 27911912; 17503326 Phenotypes for gene: CCDC50 were set to Deafness, autosomal dominant 44, MIM# 607453; Childhood onset deafness, progressive |
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