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Hearing loss

Gene: KCNQ4

Green List (high evidence)

KCNQ4 (potassium voltage-gated channel subfamily Q member 4)
EnsemblGeneIds (GRCh38): ENSG00000117013
EnsemblGeneIds (GRCh37): ENSG00000117013
OMIM: 603537, Gene2Phenotype
KCNQ4 is in 2 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

Updating the mode of inheritance from monoallelic to 'both', after feedback from an Expert Reviewer who has another case in their lab. Feedback also included that the mice model with a homozygous 'dominant negative' mutation are also affected by progressive deafness (PMID:16437162).
Created: 11 Oct 2018, 2:16 p.m.
PMID: 26036578 - a report of a family, where the proband had severe congenital/early onset hearing loss and was homozygous for a novel frameshift variant (8 nucleotide deletion resulting in a frameshift). KCNQ4 was also sequences in two of her sisters. One sister was heterozygous for the same variant but unaffected, the other was homozygous wild type. GJB2 and CDH23 were also examined. The parents and other siblings were not genotyped. The mechanism of the variant in homozygous form was suggested to result in complete loss of the A-domain and B-segment of the protein, causing loss of function due to failure of tetramer formation and CaM binding, whereas in heterozygous form, it was suggsted there may be sufficient tetramer formation and CaM binding sites to allow for a normal penotype. No functional studies were carried to confirm this hypothesis. There does not seem to be enough evidence at this time to change the mode of inheritance to 'both'.
Created: 14 Aug 2018, 8:19 a.m.
New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 3:10 p.m.

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

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

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

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Jun Shen (Harvard Medical School)

Green List (high evidence)

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

Phenotypes
#600101:Deafness, autosomal dominant 2A[Deafness, postlingualLoss of high frequencies at onsetLoss of mid- and low-frequencies laterTinnitus (variable)No vestibular impairment]

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:41 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • #600101:Deafness, autosomal dominant 2A
Tags
watchlist
OMIM
603537
Clinvar variants
Variants in KCNQ4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Oct 2018, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: KCNQ4 were set to 26036578; 10025409; 10080176; 10369879; 10571947; 10760249; 10760300; 10925378; 11450843; 12112653; 12670425; 16596322; 18030493; 20966080; 8035838; 9126484

11 Oct 2018, Gel status: 4

Removed Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source Expert was removed from KCNQ4. Mode of inheritance for gene KCNQ4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

11 Oct 2018, Gel status: 3

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag watchlist tag was added to gene: KCNQ4.

11 Oct 2018, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: KCNQ4 were set to 26036578; 10025409; 10080176; 10369879; 10571947; 10760249; 10760300; 10925378; 11450843; 12112653; 12670425; 16596322; 18030493; 20966080; 8035838; 9126484

11 Oct 2018, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: KCNQ4 were set to PMID:10025409; 10080176; 10369879; 10571947; 10760249; 10760300; 10925378; 11450843; 12112653; 12670425; 16596322; 18030493; 20966080; 8035838; 9126484

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KCNQ4 were set to #600101:Deafness, autosomal dominant 2A

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KCNQ4 were set to PMID:10025409; 10080176; 10369879; 10571947; 10760249; 10760300; 10925378; 11450843; 12112653; 12670425; 16596322; 18030493; 20966080; 8035838; 9126484

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for KCNQ4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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)

KCNQ4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNQ4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNQ4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNQ4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert