Monogenic hearing loss
Gene: CCDC50Comment 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.
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 #607453Created: 17 Feb 2019, 4:35 p.m.
Publications
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.
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
Comment on list classification: Evidence in OMIM from only 1 patient. None in G2PCreated: 29 Jan 2016, 2:31 p.m.
only 1 mutation reportedCreated: 13 Oct 2015, 8:24 p.m.
Publications for gene: CCDC50 were set to PMID:12483295; 14527723; 16803894; 17503326
Mode of inheritance for gene: CCDC50 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: ccdc50 has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for CCDC50 were set to Deafness, autosomal dominant 44, 607453; hearing loss; #607453:?Deafness, autosomal dominant 44
Publications for CCDC50 were set to PMID:12483295; 14527723; 16803894; 17503326
Mode of inheritance for CCDC50 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for CCDC50 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CCDC50 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert
CCDC50 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert
CCDC50 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert
CCDC50 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert