Brain Channelopathies
Gene: KCNJ2
KCNJ2 (potassium voltage-gated channel subfamily J member 2)
EnsemblGeneIds (GRCh38): ENSG00000123700
EnsemblGeneIds (GRCh37): ENSG00000123700
OMIM: 600681, Gene2Phenotype
KCNJ2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000123700
EnsemblGeneIds (GRCh37): ENSG00000123700
OMIM: 600681, Gene2Phenotype
KCNJ2 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multisystem channelopathy characterised by periodic paralysis as well as ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. > 10 families reported, well established gene-disease association.Created: 20 Aug 2020, 7:56 a.m. | Last Modified: 20 Aug 2020, 7:56 a.m.
Panel Version: 0.5
Phenotypes
Andersen syndrome, MIM# 170390
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Andersen syndrome, MIM# 170390
- 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
20 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnj2 has been classified as Green List (High Evidence).
20 Aug 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KCNJ2 were changed from to Andersen syndrome, MIM# 170390
20 Aug 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KCNJ2 were set to
20 Aug 2020, Gel status: 3
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
17 Nov 2019, Gel status: 3
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 Channelopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNJ2 was set to Unknown