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Hearing loss

Gene: KCNQ1

Green List (high evidence)

KCNQ1 (potassium voltage-gated channel subfamily Q member 1)
EnsemblGeneIds (GRCh38): ENSG00000053918
EnsemblGeneIds (GRCh37): ENSG00000053918
OMIM: 607542, Gene2Phenotype
KCNQ1 is in 9 panels

5 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Biallelic for JLNS.
Created: 17 Feb 2016, 4:50 p.m.

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#192500:{Long QT syndrome 1, acquired, susceptibility to}[Normal hearing; Prolonged QT interval on EKGSyncopeVentricular fibrillationTorsade de pointesSudden cardiac death]; #220400:Jervell and Lange-Nielsen syndrome[Congenital sensorineural hearing loss; Prolonged QT interval on EKGSyncopeTorsades de pointesSudden cardiac death; Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1,)Caused by mutation in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1,)]; #607554:Atrial fibrillation, familial, 3[Atrial fibrillation, isolatedRapid heart beatIrregular heart beatThromboembolic stroke may occur]; #609621:Short QT syndrome 2

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 7:50 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Good evidence for causing JLNS syndrome (rare cause) and the diagnosis could be missed so put on green list. It is an essential finding to report and very actionable, and potentially life-saving.
Created: 19 Oct 2015, 5:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • #220400: Jervell and Lange-Nielsen syndrome [Congenital sensorineural hearing loss, Prolonged QT interval on EKG, SyncopeTorsades de pointes, Sudden cardiac death, Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1), Caused by mutation in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1)]
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KCNQ1 were set to #220400: Jervell and Lange-Nielsen syndrome [Congenital sensorineural hearing loss, Prolonged QT interval on EKG, SyncopeTorsades de pointes, Sudden cardiac death, Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1), Caused by mutation in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1)]

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KCNQ1 were set to PMID:10024302; 10077519; 10086971; 10220144; 10220444; 10393948; 10477533; 10482963; 10511610; 10654932; 10973849; 11106355; 11140949; 11216980; 11226272; 11528397; 11684219; 11799244; 11997281; 12205113; 12410230; 12522251; 12554682; 12689588; 12702160; 14756674; 15051636; 15159330; 15207237; 15358555; 15385447; 15498462; 15516931; 15516932; 15840476; 16314573; 16414944; 16922724; 16990515; 17192539; 17360457; 18452873; 18580685; 19632626; 19767733; 20660394; 23350853; 23851063; 24096004; 8487283; 8528244; 8872472; 8900282; 8900283; 9020829; 9020845; 9020846; 9024139; 9108097; 9164812; 9164815; 9323054; 9386136; 9570196; 9641694; 9654228; 9693036; 9702906; 9753711; 9781056; 9927398; 9950666

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for KCNQ1 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for KCNQ1 was changed to BIALLELIC, autosomal or pseudoautosomal

31 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).

31 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: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNQ1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNQ1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNQ1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert