KCNQ1

potassium voltage-gated channel subfamily Q member 1
OMIM: 607542, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Red KCNQ1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Long QT syndrome 1, 192500
Green KCNQ1 in Incidentalome Version 0.301	review	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 Long QT syndrome 1, MIM# 192500 Short QT syndrome 2, MIM# 609621 Jervell and Lange-Nielsen syndrome, MIM# 220400 Atrial fibrillation, familial, 3, MIM# 607554 Tags cardiac
Green KCNQ1 in Long QT Syndrome Level 2: Cardiovascular disorders Version 0.61 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel	review	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 Atrial fibrillation, familial, 3 607554 Jervell and Lange-Nielsen syndrome 220400 Long QT syndrome 1, 192500 Short QT syndrome 2 609621
Green KCNQ1 in Short QT syndrome Level 2: Cardiovascular disorders Version 1.7 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short QT syndrome 1 bradycardia atrial fibrillation
Green KCNQ1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Jervell and Lange-Nielsen syndrome, MIM# 220400
Green KCNQ1 in Additional findings_Adult Level 2: Screening Version 0.166	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Long QT syndrome 1, MIM# 192500
Green KCNQ1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Jervell and Lange-Nielsen syndrome, 220400 (3)
Amber KCNQ1 in Pituitary hormone deficiency Level 2: Endocrine disorders Version 0.34	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Amber Phenotypes Pituitary hormone deficiency Long QT syndrome 1 (192500)
Green KCNQ1 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	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
Amber KCNQ1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	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
Green KCNQ1 in Incidentalome_PREGEN_DRAFT Version 0.43	review	Unknown	Sources NSW Health Pathology Expert Review Green
Amber KCNQ1 in Imprinting disorders Version 1.3	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Amber Literature Phenotypes Beckwith-Wiedemann Syndrome
Green KCNQ1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert Review Phenotypes Long QT syndrome 1, 192500
Green KCNQ1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Jervell and Lange-Nielsen syndrome, 220400 (3)
Green KCNQ1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BabySeq Category B gene BeginNGS Phenotypes Jervell and Lange-Nielsen syndrome MIM#220400 Long QT syndrome 1, MIM# 192500 Tags cardiac treatable deafness
Green KCNQ1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	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
Green KCNQ1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Jervell and Lange-Nielsen syndrome, 220400 (3)