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  3. KCNJ8
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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 6 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Consistency check - other Cantu syndrome gene ABCC9 is on panel. Two reported unrelated patients plus functional evidence of GOF. Relevant fetal features -cardiomegaly, AVMs, polyhydramnios, oedema reported at birth therefore potentially hydrops. GOF mechanism. Phenotype is appropriate & meets PanelApp criterion C.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cantu syndrome

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

Macrosomia, macrocephaly, cardiomegaly, not reported antenatally but could be seen. Keep amber.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cantu syndrome

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P on 08/03/2019: Cantu syndrome. Rated probable in DDG2P for Cantu syndrome. DG2P mode of pathogenicity for Cantu syndrome: gain of function. DG2P mode of inheritance for Cantu syndrome: monoallelic.
Created: 12 Mar 2019, 11:09 a.m.
Created: 12 Mar 2019, 11:09 a.m.

Panel version: 0.127

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • DD-Gene2Phenotype
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

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Cantu syndrome for gene: KCNJ8

9 Mar 2026, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to KCNJ8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Aug 2024, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to KCNJ8. Mode of inheritance for gene KCNJ8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ8 were updated from 24176758; 24700710; 25275207 to 25275207; 24700710; 24176758

12 Mar 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: KCNJ8 was added gene: KCNJ8 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207 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