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DDG2P

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for KCNE1-related Jervell and Lange-Nielsen syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 10973849, 16461811, 19716085, 30461122, 31941373, 9328483, 9354783, 9445165). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00124. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNE1-related long QT syndrome are limited, monoallelic_autosomal and undetermined (PMIDs: 10973849, 31941373, 9354802). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00931.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 30461122).

The DDG2P confidence category for the disease LONG QT SYNDROME-5, OMIM:613695 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 5:32 p.m.
Panel Version: 3.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LONG QT SYNDROME-5, OMIM:613695; KCNE1-related long QT syndrome; OMIM:612347.0; MONDO:0013372; JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347; MONDO:0012871; KCNE1-related Jervell and Lange-Nielsen syndrome; OMIM:613695.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 5:32 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.
Panel Version: 1.131
Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for LONG QT SYNDROME-5, and DDG2P Disease confidence of 'both DD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2.
Created: 29 Jan 2019, 12:14 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:52 p.m.
DDG2P mode of pathogenicity for both disorders: all missense/in frame. Multiple MOIs in DD-G2P download: monoallelic and biallelic. Multiple ratings in DD-G2P download: Rated both DD and IF for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347. Rated child IF for LONG QT SYNDROME-5 613695.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 1.131

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
  • Long QT syndrome 5, OMIM:613695
OMIM
176261
Clinvar variants
Variants in KCNE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: KCNE1 was changed from Other to None

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: KCNE1.

4 Oct 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to KCNE1. Mode of inheritance for gene KCNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene KCNE1 was changed from Other - please provide details in the comments to Other Publications for gene: KCNE1 were updated from to 30461122 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Mar 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KCNE1 were changed from JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347; LONG QT SYNDROME-5 613695 to Jervell and Lange-Nielsen syndrome 2, OMIM:612347; Long QT syndrome 5, OMIM:613695

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: DDG2P mode of pathogenicity fo

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: KCNE1.

19 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes LONG QT SYNDROME-5 613695 for gene: KCNE1

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: KCNE1 was added gene: KCNE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347 Mode of pathogenicity for gene: KCNE1 was set to Other - please provide details in the comments