Long QT Syndrome
Gene: KCNJ2EnsemblGeneIds (GRCh38): ENSG00000123700
EnsemblGeneIds (GRCh37): ENSG00000123700
OMIM: 600681, Gene2Phenotype
KCNJ2 is in 14 panels
1 review
Ivan Macciocca (Victorian Clinical Genetics Services)
As reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group:
KCNJ2 is reported to be associated with a multiple organ system involvement syndrome Andersen-Tawil Syndrome which includes a prolonged QT interval and ventricular arrhythmias as part of the phenotypic expression. The Working Group classified this gene separately its role in the full multiorgan syndrome and for its role for causing only the cardiac specific phenotype of LQTS. It was classified as having definitive evidence for the multiorgan syndrome, the level of evidence for the cardiac specific phenotype was classified as limited for KCNJ2.Created: 31 May 2020, 2:07 p.m. | Last Modified: 31 May 2020, 2:07 p.m.
Panel Version: 0.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
long QT syndrome; Andersen-Tawil syndrome
Publications
- PMID: 31983240
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- long QT syndrome
- Andersen-Tawil syndrome
- OMIM
- 600681
- Clinvar variants
- Variants in KCNJ2
- Penetrance
- None
- Publications
- Panels with this gene
-
- BabyScreen+ newborn screening
- Catecholaminergic Polymorphic Ventricular Tachycardia
- Transplant Co-Morbidity Superpanel
- Skeletal Muscle Channelopathies
- Pierre Robin Sequence
- Paroxysmal Dyskinesia
- Short QT syndrome
- Long QT Syndrome
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Brain Channelopathies
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnj2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KCNJ2 were changed from to long QT syndrome; Andersen-Tawil syndrome
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KCNJ2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KCNJ2 was added gene: KCNJ2 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNJ2 was set to Unknown