Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: KCNE1

Green List (high evidence)

KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000180509
EnsemblGeneIds (GRCh37): ENSG00000180509
OMIM: 176261, Gene2Phenotype
KCNE1 is in 8 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: Studies report homozygous or compound heterozygous mutations in affected patients.
Created: 17 Feb 2016, 4:46 p.m.

Jun Shen (Harvard Medical School)

Green List (high evidence)

Inheritance: AD for long QT. AR for JLN2
Created: 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

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 7:49 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, 5:56 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, 612347
  • JLNS
  • Long QT syndrome-5, 613695
OMIM
176261
Clinvar variants
Variants in KCNE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

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

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for KCNE1 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Feb 2016, Gel status: 4

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

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for KCNE1 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)

KCNE1 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)

KCNE1 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)

KCNE1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert