Monogenic hearing loss
Gene: KCNE1EnsemblGeneIds (GRCh38): ENSG00000180509
EnsemblGeneIds (GRCh37): ENSG00000180509
OMIM: 176261, Gene2Phenotype
KCNE1 is in 8 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: Studies report homozygous or compound heterozygous mutations in affected patients.Created: 17 Feb 2016, 4:46 p.m.
Jun Shen (Harvard Medical School)
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
- PMID: 9328483
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:49 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, 5:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Jervell and Lange-Nielsen syndrome 2, OMIM:612347
- OMIM
- 176261
- Clinvar variants
- Variants in KCNE1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KCNE1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KCNE1 were set to Jervell and Lange-Nielsen syndrome 2, 612347; JLNS; Long QT syndrome-5, 613695
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for KCNE1 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)KCNE1 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)KCNE1 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)KCNE1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert