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Epileptic encephalopathy

Gene: KCNT1

Green List (high evidence)

KCNT1 (potassium sodium-activated channel subfamily T member 1)
EnsemblGeneIds (GRCh38): ENSG00000107147
EnsemblGeneIds (GRCh37): ENSG00000107147
OMIM: 608167, Gene2Phenotype
KCNT1 is in 4 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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.
20 Jan 2016, 12:45 p.m.
Comment on phenotypes: Sourced from reviewers, OMIM and G2P.
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.
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

20 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jan 2016, Gel status: 4

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

20 Jan 2016, Gel status: 4

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

20 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for KCNT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

KCNT1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

1 Jul 2015, Gel status: 2

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

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNT1 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 2

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

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNT1 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNT1 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert