KCNQ1

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

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red KCNQ1 in Hypertrophic cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed
Red KCNQ1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Long QT syndrome 1, 192500
Green KCNQ1 in Incidentalome Version 1.0	3 reviews	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 1.0	3 reviews	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 2.0	1 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 2.0	1 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 2.0	1 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 1.0	0 reviews	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 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Hypopituitarism, MONDO:0005152 Long QT syndrome 1 (192500)
Amber KCNQ1 in Additional findings_Paediatric Level 2: Screening Version 1.0	1 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 1.0	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Amber KCNQ1 in Imprinting disorders Version 2.0	1 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 2.0	1 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 3.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Jervell and Lange-Nielsen syndrome, 220400 (3)
Green KCNQ1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	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 treatable cardiac deafness
Green KCNQ1 in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	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 3.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Jervell and Lange-Nielsen syndrome MIM#220400
Amber KCNQ1 in Adrenal insufficiency Level 3: Adrenal disorders Level 2: Endocrine disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Hypopituitarism, MONDO:0005152 Long QT syndrome 1 (192500)