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  3. KCNQ5
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Fetal anomalies

Gene: KCNQ5

Red List (low evidence)
KCNQ5 (potassium voltage-gated channel subfamily Q member 5)
EnsemblGeneIds (GRCh38): ENSG00000185760
EnsemblGeneIds (GRCh37): ENSG00000185760
OMIM: 607357, Gene2Phenotype
KCNQ5 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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: 6.148

Alice Gardham (North West Thames Genetics)

Red List (low evidence)

Another causative gene variant identified
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, imprinted status unknown

Phenotypes
Intellectual developmental disorder, autosomal dominant 46, OMIM:617601

Publications

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

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Intellectual Disability with or without Epileptic Encephalopathy
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF and Activating for Intellectual Disability with or without Epileptic Encephalopathy.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability with or without Epileptic Encephalopathy
  • Intellectual developmental disorder, autosomal dominant 46, OMIM:617601
OMIM
607357
Clinvar variants
Variants in KCNQ5
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Intellectual developmental disorder, autosomal dominant 46, OMIM:617601 for gene: KCNQ5

9 Mar 2026, Gel status: 1

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Red was added to KCNQ5. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Intellectual Disability with or without Epileptic Encephalopathy for gene: KCNQ5

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: KCNQ5 was added gene: KCNQ5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy