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  3. KCNQ1
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Newborns additional phenotypes panel 1

Gene: KCNQ1

Amber List (moderate evidence)
KCNQ1 (potassium voltage-gated channel subfamily Q member 1)
EnsemblGeneIds (GRCh38): ENSG00000053918
EnsemblGeneIds (GRCh37): ENSG00000053918
OMIM: 607542, Gene2Phenotype
KCNQ1 is in 9 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Green to Amber due to advice from clinical experts.
Created: 26 Jun 2024, 9:11 a.m. | Last Modified: 26 Jun 2024, 9:11 a.m.
Panel Version: 0.100
Created: 26 Jun 2024, 9:11 a.m.
Last Modified: 26 Jun 2024, 9:11 a.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are dominant-negative (DN) and loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 18 Dec 2023, 4:18 p.m.
Panel Version: 0.59
KCNQ1 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 18 Dec 2023, 4:18 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Long QT Syndrome 1
Tags
internal_inclusion_list_only
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
None
Panels with this gene

History Filter Activity

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kcnq1 has been classified as Amber List (Moderate Evidence).

14 Feb 2024, Gel status: 3

Set mode of pathogenicity

Ivone Leong (Genomics England Curator)

Mode of pathogenicity for gene: KCNQ1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

14 Feb 2024, Gel status: 3

Set mode of pathogenicity

Ivone Leong (Genomics England Curator)

Mode of pathogenicity for gene: KCNQ1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

18 Dec 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: KCNQ1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

18 Dec 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: KCNQ1.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Long QT Syndrome 1 for gene: KCNQ1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Long QT Syndrome 1 for gene: KCNQ1

31 May 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to KCNQ1. Mode of pathogenicity for gene KCNQ1 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 Long QT Syndrome 1 for gene: KCNQ1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to KCNQ1. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: KCNQ1 was added gene: KCNQ1 was added to Newborns additional phenotypes panel. Sources: Expert Review Green Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ1 were set to Long QT Syndrome 1