This Panel is marked as Retired
Epilepsy Plus
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
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Benign Familial Neonatal Seizures
- Seizures, benign neonatal, type 2
- OMIM
- 602232
- Clinvar variants
- Variants in KCNQ3
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Brain channelopathy
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)KCNQ3 was added to Epilepsy Pluspanel. Source: Expert KCNQ3 was added to Epilepsy Pluspanel. Source: Expert Review Green
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)KCNQ3 was created by ellenmcdonagh
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)KCNQ3 was added to Epilepsy Pluspanel. Sources: Illumina TruGenome Clinical Sequencing Services