Pituitary hormone deficiency
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
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Genomics England PanelApp
- Expert Review Amber
- Phenotypes
-
- Pituitary hormone deficiency
- Long QT syndrome 1 (192500)
- OMIM
- 607542
- Clinvar variants
- Variants in KCNQ1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- 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
- Additional findings_Adult
- Prepair 500+
History Filter Activity
13 Jul 2020, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: KCNQ1 was added gene: KCNQ1 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNQ1 were set to 29097701 Phenotypes for gene: KCNQ1 were set to Pituitary hormone deficiency; Long QT syndrome 1 (192500)