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  3. KCNQ1
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Deafness_Isolated

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 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, deafness is part of the phenotype.
Created: 30 Sep 2020, 10:13 a.m. | Last Modified: 30 Sep 2020, 10:13 a.m.
Panel Version: 0.491

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jervell and Lange-Nielsen syndrome, MIM# 220400

Created: 30 Sep 2020, 10:13 a.m.
Last Modified: 30 Sep 2020, 10:13 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.491

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Jervell and Lange-Nielsen syndrome, MIM# 220400
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
None
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNQ1 were changed from to Jervell and Lange-Nielsen syndrome, MIM# 220400

3 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNQ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNQ1 was added gene: KCNQ1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNQ1 was set to Unknown