Additional findings_Paediatric
Gene: KCNQ1

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jervell and Lange-Nielsen syndrome MIM#220400

Created: 29 Dec 2020, 1:06 a.m.
Last Modified: 29 Dec 2020, 1:06 a.m.
Panel version: 0.190

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
BabySeq Category B gene
BabySeq Category A gene

Phenotypes

Jervell and Lange-Nielsen syndrome
Long QT syndrome-1

OMIM

607542

Clinvar variants

Variants in KCNQ1

Penetrance

None

Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category B gene was added to KCNQ1. Source Expert Review Amber was added to KCNQ1. Mode of inheritance for gene KCNQ1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Long QT syndrome-1 for gene: KCNQ1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

27 Aug 2020, Gel status: 3

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