Brain channelopathy
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
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green as this gene is associated to a relevant phenotype in OMIM and it was suggested by an expert reviewer (Dr Matthews)Created: 22 Feb 2017, 2:49 p.m.
Gene added to the list as suggested by the expert, Dr Matthews as mutations cause an overlapping phenotypeCreated: 21 Feb 2017, 5:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Seizures, benign neonatal, type 2, 121201
- OMIM
- 602232
- Clinvar variants
- Variants in KCNQ3
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Early onset or syndromic epilepsy
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
History Filter Activity
22 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Feb 2017, Gel status: 4
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for KCNQ3 were set to Seizures, benign neonatal, type 2, 121201
22 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Feb 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)KCNQ3 was created by arianna
21 Feb 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)KCNQ3 was added to Brain channelopathypanel. Sources: Expert list