KCNE1

potassium voltage-gated channel subfamily E regulatory subunit 1
OMIM: 176261, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green KCNE1 in Incidentalome


Version 0.301

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, MIM# 612347
  • Long QT syndrome 5, MIM# 613695
Tags
  • cardiac

Amber KCNE1 in Long QT Syndrome


Level 2: Cardiovascular disorders
Version 0.61

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Jervell and Lange-Nielsen syndrome 2, MIM# 612347
    • Long QT syndrome 5, MIM# 613695
    • Acquired LQTS

    Green KCNE1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Jervell and Lange-Nielsen syndrome 2, MIM# 612347

    Amber KCNE1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Mackenzie's Mission
    Phenotypes
    • Jervell and Lange-Nielsen syndrome 2, 612347 (3)

    Green KCNE1 in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Jervell and Lange-Nielsen syndrome 2, MIM# 612347

    Amber KCNE1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review 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

    Red KCNE1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Jervell and Lange-Nielsen syndrome 2, MIM# 612347

    Amber KCNE1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Long QT syndrome-5
    • Jervell and Lange-Nielsen syndrome