Deafness_IsolatedAndComplex
Gene: CCDC50EnsemblGeneIds (GRCh38): ENSG00000152492
EnsemblGeneIds (GRCh37): ENSG00000152492
OMIM: 611051, Gene2Phenotype
CCDC50 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID 24875298 reviewed: Segregation in 4 individuals in one family with deafness. However, p.Arg76His is present in 75 hets in gnomad.Created: 6 May 2022, 12:38 a.m. | Last Modified: 6 May 2022, 12:38 a.m.
Panel Version: 1.129
Comment when marking as ready: Additional family identified, classification changed to Green.Created: 2 Jan 2020, 3:40 a.m. | Last Modified: 2 Jan 2020, 3:40 a.m.
Panel Version: 0.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness, autosomal dominant 44 , MIM# 607453
Publications
Lilian Downie (Victorian Clinical Genetics Services)
Reported in 2 families - segregation with phenotype. This gene-disease association is supported by an expression study. Classified as 'Limited' by ClinGen group.Created: 31 Dec 2019, 12:05 a.m. | Last Modified: 31 Dec 2019, 12:05 a.m.
Panel Version: 0.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Childhood onset deafness, progressive
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Deafness, autosomal dominant 44, MIM# 607453
- Childhood onset deafness, progressive
- OMIM
- 611051
- Clinvar variants
- Variants in CCDC50
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc50 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CCDC50 were set to 17503326; 27911912; 24875298
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CCDC50 were set to 17503326; 27911912
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc50 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CCDC50 were set to
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CCDC50 were changed from to Deafness, autosomal dominant 44, MIM# 607453; Childhood onset deafness, progressive
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CCDC50 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CCDC50 was added gene: CCDC50 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: CCDC50 was set to Unknown