Epileptic encephalopathy
Gene: KCNT1EnsemblGeneIds (GRCh38): ENSG00000107147
EnsemblGeneIds (GRCh37): ENSG00000107147
OMIM: 608167, Gene2Phenotype
KCNT1 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 14; Epilepsy, nocturnal frontal lobe, 5
Publications
- Barcia at al (2012) Nature Genet 44(11): 1255-1261
- Heron et al (2012) Nature Genet 44(11): 1188-1190
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
Phenotypes
Epileptic encephalopathy, early infantile, 14; Epilepsy, nocturnal frontal lobe, 5
Publications
- Barcia at al (2012) Nature Genet 44(11): 1255-1261
- Heron et al (2012) Nature Genet 44(11): 1188-1190
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
Phenotypes
Epileptic encephalopathy, early infantile, 14; Epilepsy, nocturnal frontal lobe, 5
Publications
- Barcia at al (2012) Nature Genet 44(11): 1255-1261
- Heron et al (2012) Nature Genet 44(11): 1188-1190
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
Phenotypes
Epileptic encephalopathy, early infantile, 14; Epilepsy, nocturnal frontal lobe, 5
Publications
- Barcia at al (2012) Nature Genet 44(11): 1255-1261
- Heron et al (2012) Nature Genet 44(11): 1188-1190
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 for malignant migrating partial seizures of infancy and severe autosomal dominant noctural frontal lobe epilepsy, and all reviewers agree this should be green on this panel. Activating variants cause malignant migrating partial seizures of infancy, and missense/in frame variants severe autosomal dominant noctural frontal lobe epilepsy.Created: 20 Jan 2016, 12:45 p.m.
Comment on phenotypes: Sourced from reviewers, OMIM and G2P.Created: 20 Jan 2016, 12:36 p.m.
Comment on mode of inheritance: Monoallelic confirmed for both phenotypes on G2P and OMIM. Not on the imprinted gene list.Created: 20 Jan 2016, 12:34 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 14
- Epilepsy, nocturnal frontal lobe, 5
- MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
- SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
- OMIM
- 608167
- Clinvar variants
- Variants in KCNT1
- Penetrance
- Complete
- Publications
-
- Barcia at al (2012) Nature Genet 44(11): 1255-1261
- Heron et al (2012) Nature Genet 44(11): 1188-1190
- Panels with this gene
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 KCNT1 were set to Epileptic encephalopathy, early infantile, 14; Epilepsy, nocturnal frontal lobe, 5; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY; SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KCNT1 were set to Barcia at al (2012) Nature Genet 44(11): 1255-1261; Heron et al (2012) Nature Genet 44(11): 1188-1190
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KCNT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)KCNT1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KCNT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)KCNT1 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KCNT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)KCNT1 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)KCNT1 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert