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Fetal anomalies

Gene: KCNJ6

Red List (low evidence)
KCNJ6 (potassium voltage-gated channel subfamily J member 6)
EnsemblGeneIds (GRCh38): ENSG00000157542
EnsemblGeneIds (GRCh37): ENSG00000157542
OMIM: 600877, Gene2Phenotype
KCNJ6 is in 4 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. 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, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Chandler (North Thames GLH)

Red List (low evidence)

Gain of function variants. Green on other panels ID, DDG2P, Lipodystrophy. Red on Aus PanelApp fetal anomalies - phenotype deemed not prenatally relevant. PMID 29852244 reports normal pregnancy birth weight 30th centile. PMID 25620207 1case polyhdramnios but normal birth and head circumference. 2 other cases unremarkable pregnancy. 2 cases high palate, narrow nasal palate, 1 micrognathia. PMID 36071510 thin nasal bridge, shallow orbits with large eye.All studies suggest normal growth at birth. Subtle dysmorphic features unlikely to be detectable on scan?
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Keppen-Lubinsky syndrome, MIM#614098

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for KEPPEN-LUBINSKY SYNDROME
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Keppen-Lubinsky syndrome, OMIM:614098
OMIM
600877
Clinvar variants
Variants in KCNJ6
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: KCNJ6 were changed from Keppen-Lubinsky syndrome, OMIM:614098; KEPPEN-LUBINSKY SYNDROME to Keppen-Lubinsky syndrome, OMIM:614098

20 Feb 2025, Gel status: 1

Added New Source, Added New Source, Set mode of inheritance, Set mode of pathogenicity, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to KCNJ6. Source Expert Review Red was added to KCNJ6. Mode of inheritance for gene KCNJ6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene KCNJ6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Keppen-Lubinsky syndrome, OMIM:614098 for gene: KCNJ6 Publications for gene: KCNJ6 were updated from to 34964963; 36071510; 25620207; 29852244 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: KCNJ6 was added gene: KCNJ6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME