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  3. KCNE1
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Additional findings_Paediatric

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

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • BabySeq Category B gene
  • BabySeq Category A gene
Phenotypes
  • Jervell and Lange-Nielsen syndrome
  • Long QT syndrome-5
OMIM
176261
Clinvar variants
Variants in KCNE1
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 2

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category B gene was added to KCNE1. Source Expert Review Amber was added to KCNE1. Mode of inheritance for gene KCNE1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Long QT syndrome-5 for gene: KCNE1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

27 Aug 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 Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene 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