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Mackenzie's Mission_Reproductive Carrier Screening

Gene: KCNE1

Amber List (moderate 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

Seb Lunke (Victorian Clinical Genetics Services)

I don't know

Comment by Ivan Macciocca:
as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group:
Genetic evidence associating this gene with disease causality was also based on a candidate gene approach and was limited in scope. There is strong evidence for a role of KCNE1 in acquired LQTS which led the panel to classify it as having limited evidence for disease causality for unprovoked LQTS, although studies in large families with variant
segregation is lacking. Furthermore, several case reports have identified homozygous or compound heterozygous rare variants in KCNE1 in patients with Jervell and Lange-Nielsen syndrome; however, parents or siblings carrying only 1 allele have reported normal phenotypes, suggesting an association of this gene with an autosomal-recessive form of LQTS.

Comment by Zornitza Stark:
Rated as MODERATE by ClinGen for bi-allelic disease. Evidence for mono-allelic disease is limited.

Additional: Technically challenging as only coding exon has reduced mappability and putative (but disputed) pseudogene KCNE1B that was introduced in GRCh38, but is not present in GRCh37/hg19 (PMID31527855, PMID30936463)

Association with Long-QT is questionable. Remains GREEN for Deafness, but on balance does not currently meet inclusion criteria for Mackenzie's Mission
Created: 16 Oct 2020, 6:02 a.m. | Last Modified: 16 Oct 2020, 6:08 a.m.
Panel Version: 0.31

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Long QT syndrome 5, MIM# 613695; Jervell and Lange-Nielsen syndrome 2, MIM# 612347; Acquired LQTS

Publications

Sarah Righetti (University of New South Wales)

Green List (high evidence)

Note different genome builds have differences in mappability
Created: 16 Oct 2020, 4:07 a.m. | Last Modified: 16 Oct 2020, 4:07 a.m.
Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, 612347 (3)
OMIM
176261
Clinvar variants
Variants in KCNE1
Penetrance
None
Panels with this gene

History Filter Activity

16 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: kcne1 has been classified as Amber List (Moderate Evidence).

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNE1 was added gene: KCNE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome 2, 612347 (3)