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Deafness_IsolatedAndComplex

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

History Filter Activity

30 Sep 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).

30 Sep 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

30 Sep 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

17 Nov 2019, 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 Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: KCNQ1 was set to Unknown