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Hearing loss

Gene: CCDC50

Green List (high evidence)

CCDC50 (coiled-coil domain containing 50)
EnsemblGeneIds (GRCh38): ENSG00000152492
EnsemblGeneIds (GRCh37): ENSG00000152492
OMIM: 611051, Gene2Phenotype
CCDC50 is in 1 panel

6 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changing rating from red to green. 3 cases reported in the literature.
Created: 18 Feb 2019, 11:08 a.m.
Provisional association with ?Deafness, autosomal dominant 44 (607453) in OMIM

PMID: 17503326 - Modamio-Hoybjor et al. (2007) - Spanish family segregating progressive, postlingual, nonsyndromic sensorineural hearing loss. Identified a heterozygous mutation (c.1394_1401dupCACGGCAT) that leads to a frameshift (p.Phe468HisfsX37).

PMID: 24875298 - Vona et al 2014 - family with moderate midgrade HL since birth. A heterozygous missense variant c.227G>A, p.Arg76His was identified.

PMID: 27911912 - Iwasa et al 2016 - a probably pathogenic variant in CCDC50 was found when screening Japansese Autosomal Dominant Sensorineural Hearing Loss Patients. The variant is NM_178335 c.820C>T, p.R274X. The proband had moderate hearing loss. The variant was not found in 538 control chromosomes.

PMID: 27068579 - (Somen et al 2016) - screened patients of Western‐European ethnicity with nonsyndromic, sensorineural, mild to profound, and symmetric HL. Can't find mention of variants in CCDC50 in this publication.
Created: 18 Feb 2019, 11:05 a.m.

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

4 different mutations, 4 separate reports so must be 4 families, hearing loss (Vona et al 2014 PMID 24875298), sensorineural hearing loss (Iwasa et al 2016 PMID 27911912), non-syndromic hearing loss (Somen et al 2016 PMID 27068579), progressive hearing loss (Modamio-Hoybjor 2007 PMID 17503326). OMIM #607453
Created: 17 Feb 2019, 4:35 p.m.

Publications

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM, and not on imprinted gene list.
Created: 17 Feb 2016, 12:17 p.m.
Comment on list classification: Demoted from green to red as not enough evidence at this time.
Created: 17 Feb 2016, 12:09 p.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#607453:?Deafness, autosomal dominant 44[Hearing loss, sensorineural, postlingual progressive (mainly affecting 125Hz to 2,000 Hz)]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Evidence in OMIM from only 1 patient. None in G2P
Created: 29 Jan 2016, 2:31 p.m.

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

only 1 mutation reported
Created: 13 Oct 2015, 8:24 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal dominant 44, 607453
  • hearing loss
  • #607453:?Deafness, autosomal dominant 44
OMIM
611051
Clinvar variants
Variants in CCDC50
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CCDC50 were set to PMID:12483295; 14527723; 16803894; 17503326

18 Feb 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

18 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

17 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CCDC50 were set to Deafness, autosomal dominant 44, 607453; hearing loss; #607453:?Deafness, autosomal dominant 44

17 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CCDC50 were set to PMID:12483295; 14527723; 16803894; 17503326

17 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CCDC50 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CCDC50 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC50 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC50 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC50 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC50 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert