Epileptic encephalopathy
Gene: KCNQ3EnsemblGeneIds (GRCh38): ENSG00000184156
EnsemblGeneIds (GRCh37): ENSG00000184156
OMIM: 602232, Gene2Phenotype
KCNQ3 is in 10 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: A confirmed DD gene, and all reviewers agree this should be green for this panel. Missense/in frame variants in this gene cause the disorder (G2P).Created: 20 Jan 2016, 12:32 p.m.
Comment on phenotypes: Sourced from OMIM.Created: 20 Jan 2016, 12:31 p.m.
Comment on mode of inheritance: Monoallelic confirmed on G2P and OMIM. Not on the imprinted gene list.Created: 20 Jan 2016, 12:30 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KCNQ3 were set to Seizures, benign neonatal, type 2
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KCNQ3 were set to Seizures, benign neonatal, type 2;
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KCNQ3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)KCNQ3 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)KCNQ3 was added to Epileptic encephalopathypanel. Sources: Expert