Gene: KCNQ1-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: KCNQ1

Alternate names for this Gene: ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS

Gene Summary: This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5-p15.4

Description of this Gene: potassium voltage-gated channel subfamily Q member 1

Type of Gene: protein-coding

rs147445322 in KCNQ1-AS1;KCNQ1 gene and Hyperuricemia PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs397508104 in KCNQ1-AS1;KCNQ1 gene and Long QT Syndrome PMID 10024302 1999 Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

PMID 19825999 2009 Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.

PMID 25187895 2014 Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.

PMID 23098067 2012 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

PMID 16981927 2006 The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome.

PMID 23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

rs147445322 in KCNQ1-AS1;KCNQ1 gene and Long QT Syndrome 1 PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 10220146 1999 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.

PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PMID 9482580 1998 Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.

PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PMID 9312006 1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.

PMID 9323054 1997 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

PMID 9641694 1998 A recessive variant of the Romano-Ward long-QT syndrome?

PMID 24184248 2014 A molecular mechanism for adrenergic-induced long QT syndrome.

PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

PMID 9570196 1998 New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.

PMID 19808498 2009 Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

PMID 9272155 1997 The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.

PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

PMID 8818942 1996 Evidence of a long QT founder gene with varying phenotypic expression in South African families.

PMID 10367071 1999 [Congenital long QT syndrome. The value of genetics in prognostic evaluation].

PMID 21241800 2011 Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.

PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PMID 18165683 2008 The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.

rs147445322 in KCNQ1-AS1;KCNQ1 gene and Uric acid measurement (procedure) PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.