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Fetal anomalies

Gene: KCNJ8

Green List (high evidence)

KCNJ8 (potassium voltage-gated channel subfamily J member 8)
EnsemblGeneIds (GRCh38): ENSG00000121361
EnsemblGeneIds (GRCh37): ENSG00000121361
OMIM: 600935, Gene2Phenotype
KCNJ8 is in 5 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Three separate de novo missense variants reported in Cantú Syndrome patients. Macrocephaly and cardiac features reported. Patch clamp functional studies on one of the variants, predicted a gain of function effect.

ClinGen: Disputed association with Brugada syndrome. No disease association in OMIM.
Created: 20 Dec 2021, 1:40 a.m. | Last Modified: 20 Dec 2021, 1:40 a.m.
Panel Version: 0.1469

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
Cantú Syndrome

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cantu syndrome
OMIM
600935
Clinvar variants
Variants in KCNJ8
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

20 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj8 has been classified as Green List (High Evidence).

20 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNJ8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj8 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNJ8 was added gene: KCNJ8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ8 were set to 24700710; 25275207; 24176758 Phenotypes for gene: KCNJ8 were set to Cantu syndrome Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments