Monogenic hearing loss
Gene: KCNE1
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Comment on mode of inheritance: Studies report homozygous or compound heterozygous mutations in affected patients.Created: 17 Feb 2016, 4:46 p.m.
Inheritance: AD for long QT. AR for JLN2Created: 17 Feb 2016, 6:03 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
#612347:Jervell and Lange-Nielsen syndrome 2; #613695:Long QT syndrome 5[Prolonged QT interval on EKGSyncopeTorsade de pointesVentricular fibrillationSudden cardiac death]
Publications
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:49 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, 5:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: KCNE1 were changed from Jervell and Lange-Nielsen syndrome 2, 612347; JLNS; Long QT syndrome-5, 613695 to Jervell and Lange-Nielsen syndrome 2, OMIM:612347
Publications for KCNE1 were set to PMID:10400998; 10973849; 11438691; 11799244; 12670425; 14760488; 15051636; 15207237; 15840476; 16823764; 16922724; 2730656; 7622063; 7828904; 8432548; 8899564; 8900282; 8900283; 9230439; 9354783; 9354802; 9445165; 9693036; 9790991
Mode of inheritance for KCNE1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for KCNE1 were set to Jervell and Lange-Nielsen syndrome 2, 612347; JLNS; Long QT syndrome-5, 613695
Mode of inheritance for KCNE1 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).
KCNE1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
KCNE1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
KCNE1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert