This Panel is marked as Internal
Dystonia - childhood onset
Gene: KCNQ3
KCNQ3 (potassium voltage-gated channel subfamily Q member 3)
EnsemblGeneIds (GRCh38): ENSG00000184156
EnsemblGeneIds (GRCh37): ENSG00000184156
OMIM: 602232, Gene2Phenotype
KCNQ3 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000184156
EnsemblGeneIds (GRCh37): ENSG00000184156
OMIM: 602232, Gene2Phenotype
KCNQ3 is in 10 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Seizures, benign neonatal, type 2, 121201
- OMIM
- 602232
- Clinvar variants
- Variants in KCNQ3
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- Brain channelopathy
- Early onset or syndromic epilepsy
- Paroxysmal central nervous system disorders
- Fetal anomalies
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: KCNQ3 was added gene: KCNQ3 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201