Monogenic hearing loss
Gene: KCNQ1
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Comment on mode of inheritance: Biallelic for JLNS.Created: 17 Feb 2016, 4:50 p.m.
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
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:50 p.m.
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
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)]
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
Mode of inheritance for KCNQ1 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for KCNQ1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
KCNQ1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
KCNQ1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
KCNQ1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert