Transplant Co-Morbidity Superpanel
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
EnsemblGeneIds (GRCh38): ENSG00000053918
EnsemblGeneIds (GRCh37): ENSG00000053918
OMIM: 607542, Gene2Phenotype
KCNQ1 is in 17 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Jervell and Lange-Nielsen syndrome 220400
- Long QT syndrome 1, MIM# 192500
- Long QT syndrome 1, 192500
- Atrial fibrillation, familial, 3 607554
- Short QT syndrome 2 609621
- OMIM
- 607542
- Clinvar variants
- Variants in KCNQ1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Adult
- Prepair 1000+
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Hydrops fetalis
- Pituitary hormone deficiency
- Imprinting disorders
- Transplant Co-Morbidity Superpanel
- Short QT syndrome
- Long QT Syndrome
- Incidentalome
- Deafness_Isolated
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 500+
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: KCNQ1 was added gene: KCNQ1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KCNQ1 were set to 20301308; 34557911 Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome 220400; Long QT syndrome 1, MIM# 192500; Long QT syndrome 1, 192500; Atrial fibrillation, familial, 3 607554; Short QT syndrome 2 609621