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Mendeliome

Gene: CCDC50

Amber List (moderate evidence)

CCDC50 (coiled-coil domain containing 50)
EnsemblGeneIds (GRCh38): ENSG00000152492
EnsemblGeneIds (GRCh37): ENSG00000152492
OMIM: 611051, Gene2Phenotype
CCDC50 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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, 12:36 a.m. | Last Modified: 6 May 2022, 12:36 a.m.
Panel Version: 0.13862

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 44 MIM#607453

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

at least 3 families
Created: 4 Apr 2022, 6:46 a.m. | Last Modified: 4 Apr 2022, 6:46 a.m.
Panel Version: 0.12552

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 44 MIM#607453

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 44 MIM#607453
OMIM
611051
Clinvar variants
Variants in CCDC50
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CCDC50 were set to 17503326; 27911912

6 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc50 has been classified as Amber List (Moderate Evidence).

4 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: ccdc50 has been classified as Green List (High Evidence).

4 Apr 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CCDC50 were changed from to Deafness, autosomal dominant 44 MIM#607453

4 Apr 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CCDC50 were set to

4 Apr 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CCDC50 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCDC50 was set to Unknown