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Prepair 1000+

Gene: KCNE1

Red List (low 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

3 reviews

Michelle Torres (Victorian Clinical Genetics Services)

Red List (low evidence)

ClinGen assessment is from 12/15/2020, so no changes from last review.

Since limited evidence for inclusion in a screening panel and technically challenging, remains red for Prepair.
Created: 9 Jan 2025, 5:34 a.m. | Last Modified: 9 Jan 2025, 5:34 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jervell and Lange-Nielsen syndrome 2, MIM#612347

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Limited evidence for inclusion in a screening panel.
Created: 26 Jul 2022, 1:44 a.m. | Last Modified: 26 Jul 2022, 1:44 a.m.
Panel Version: 0.83

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

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 a carrier screening panel
Created: 22 Jul 2022, 3:03 a.m. | Last Modified: 22 Jul 2022, 3:03 a.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

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

History Filter Activity

26 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcne1 has been classified as Red List (Low Evidence).

26 Jul 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNE1 were changed from Jervell and Lange-Nielsen syndrome 2, 612347 (3) to Jervell and Lange-Nielsen syndrome 2, MIM# 612347

26 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcne1 has been classified as Red List (Low Evidence).

1 Jun 2022, Gel status: 2

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 Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission 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)