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Genomic imprinting

Gene: KCNQ1

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

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on reviews in Short QT syndrome (https://panelapp.genomicsengland.co.uk/panels/224/gene/KCNQ1/#!review) & Long QT syndrome (https://panelapp.genomicsengland.co.uk/panels/76/gene/KCNQ1/#!review) panels.
Created: 20 Jan 2022, 12:59 p.m. | Last Modified: 20 Jan 2022, 12:59 p.m.
Panel Version: 0.110
Created: 20 Jan 2022, 12:59 p.m.
Last Modified: 20 Jan 2022, 12:59 p.m.
Panel version: 0.110

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short QT syndrome 2, OMIM:609621
  • Long QT syndrome-1, OMIM:192500
  • Atrial fibrillation, familial, 3, OMIM:607554
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
None
Publications
  • 30794780
  • http://igc.otago.ac.nz/home.html
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: kcnq1 has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: KCNQ1 were changed from to Short QT syndrome 2, OMIM:609621; Long QT syndrome-1, OMIM:192500; Atrial fibrillation, familial, 3, OMIM:607554

22 Dec 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: KCNQ1 was added gene: KCNQ1 was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: KCNQ1 were set to 30794780; http://igc.otago.ac.nz/home.html