Short QT syndrome
Gene: KCNJ2EnsemblGeneIds (GRCh38): ENSG00000123700
EnsemblGeneIds (GRCh37): ENSG00000123700
OMIM: 600681, Gene2Phenotype
KCNJ2 is in 14 panels
1 review
Daniel Flanagan (Victorian Clinical Genetics Services)
Moderate evidence for autosomal dominant short QT syndrome 1 by ClinGen /gene curation expert panel (PMID: 34557911). 6 patients from 5 families with unique variants, including at least 2 probands with a de-novo variant. Classified as moderate evidence due to the absence of segregation or case-control data.
Gain of function mechanism reported. Experimental evidence demonstrated these variants lead to gain-of-function of the late repolarizing, KCNJ2-encoded Ik1 current in the heart, and abbreviation of the action potential duration.Created: 11 Oct 2021, 2:45 a.m. | Last Modified: 11 Oct 2021, 2:45 a.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Short QT syndrome 1
Publications
- PMID: 34557911
Mode of pathogenicity
Other
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
-
- Short QT syndrome
- OMIM
- 600681
- Clinvar variants
- Variants in KCNJ2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- 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 Short QT syndrome
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KCNJ2 were set to
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: KCNJ2 was changed from to Other
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 Short QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNJ2 was set to Unknown