1. Panels
  2. Fetal anomalies
  3. KCNQ1
Genes in panel
Prev Next

Fetal anomalies

Gene: KCNQ1

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

3 reviews

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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Previously agreed fetal arrythmias would not be investigated using this panel, HOWEVER maternally inherited variants in KCNQ1 are a rare cause of Beckwith-Wiedemann syndrome (PMID:32393365). PMID:32393365 looked at 52 cases of Beckwith Wiedemann syndrome due to loss of methylation at IC2 (which represent about 50% of cases in total) and found that 1 had a splice variant in KCNQ1, i.e. about 1% of total cases. LQTS 50% penetrance so VUS / incidental finding deemed more harm then dx. Red
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, imprinted status unknown

Phenotypes
Long QT syndrome 1, OMIM:192500

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)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Risk of incidental findings. Action taken: Demoted KCNQ1 gene rating from Green to Red.
Created: 29 Apr 2019, 12:28 p.m.
DDG2P rating in original PAGE list: Confirmed for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.222

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Long QT syndrome 1, OMIM:192500
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: KCNQ1 were changed from Long QT syndrome 1, OMIM:192500; JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 to Long QT syndrome 1, OMIM:192500

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to KCNQ1. Mode of inheritance for gene KCNQ1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Long QT syndrome 1, OMIM:192500 for gene: KCNQ1 Publications for gene: KCNQ1 were updated from to 27539165

29 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to KCNQ1. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KCNQ1 was added gene: KCNQ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1