KCNH2

potassium voltage-gated channel subfamily H member 2
OMIM: 152427, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red KCNH2 in Brugada syndrome


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
  • disputed

Red KCNH2 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • long QT syndrome

Green KCNH2 in Incidentalome


Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 2, MIM# 613688
  • Short QT syndrome , MIM#1 609620
Tags
  • cardiac

Green KCNH2 in Long QT Syndrome


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • long QT syndrome

Green KCNH2 in Short QT syndrome


Level 2: Cardiovascular disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short QT syndrome

Green KCNH2 in Additional findings_Adult


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Long QT syndrome 2, MIM# 613688

Amber KCNH2 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • BabySeq Category B gene
Phenotypes
  • Long QT syndrome-2

Green KCNH2 in Incidentalome_PREGEN_DRAFT


Version 1.0

0 reviews Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green KCNH2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category B gene
Phenotypes
  • Long QT syndrome 2, MIM# 613688
Tags
  • cardiac
  • treatable

Green KCNH2 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 2, MIM# 613688
  • Short QT syndrome