Monogenic hearing loss
Gene: KCNQ1EnsemblGeneIds (GRCh38): ENSG00000053918
EnsemblGeneIds (GRCh37): ENSG00000053918
OMIM: 607542, Gene2Phenotype
KCNQ1 is in 9 panels
5 reviews
Lampros Mavrogiannis (Leeds Genetics Laboratory)
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)
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 OMIMCreated: 31 Jan 2016, 7:50 p.m.
Maria Bitner-Glindzicz (UCL)
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
-
- 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
- Panels with this gene
History Filter Activity
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)]
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KCNQ1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for KCNQ1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
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