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  3. KCNJ2
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Fetal anomalies

Gene: KCNJ2

Green List (high evidence)
KCNJ2 (potassium voltage-gated channel subfamily J member 2)
EnsemblGeneIds (GRCh38): ENSG00000123700
EnsemblGeneIds (GRCh37): ENSG00000123700
OMIM: 600681, Gene2Phenotype
KCNJ2 is in 14 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Some features of Andersen syndrome include:
microcephaly, cleft palate, high arch palate, cardiac arrhythmia, skeletal defects such as Gracile ribs, Scapular winging, scoliosis

dominant-negative is the disease mechanism (Gene reviews)
Created: 21 Nov 2021, 11:48 p.m. | Last Modified: 21 Nov 2021, 11:48 p.m.
Panel Version: 0.582

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Andersen syndrome MIM#170390; Atrial fibrillation, familial, 9 MIM#613980; Short QT syndrome 3 MIM#609622

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Nov 2021, 11:48 p.m.
Last Modified: 21 Nov 2021, 11:48 p.m.
Panel version: 0.582

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Andersen syndrome, OMIM:170390
  • Andersen-Tawil syndrome, MONDO:0008222
OMIM
600681
Clinvar variants
Variants in KCNJ2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2021, 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).

22 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222

22 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNJ2 were set to

22 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNJ2 was added gene: KCNJ2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNJ2 were set to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222