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DDG2P

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for KCNT1-related malignant migrating partial seizures of infancy are definitive, monoallelic_autosomal and gain of function (PMIDs: 23086396, 23086397, 23278465, 24029078, 24120652, 25120433, 26122718, 26140313, 26740507, 26748457, 27081515, 28081520, 28366665, 28987752, 29037447, 29196578, 29291456, 29870100, 30112700, 30525185, 30782581, 30804880, 30847371, 30903923, 31388363, 31560846, 31872048, 31926846, 32883383, 33650128, 34147500, 34567798, 36279596, 36297665, 36746065). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00887. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNT1-related epilepsy are definitive, monoallelic_autosomal and undetermined (PMIDs: 23086396, 23086397). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00927.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23086397). The DDG2P confidence category for the disease SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY, OMIM:614959 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 23086397;23086396).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM:614959.0; MONDO:0017385; KCNT1-related epilepsy; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY; SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY, OMIM:614959; MONDO:0013989; KCNT1-related malignant migrating partial seizures of infancy

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: activating, all missense/in frame.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959
  • MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
OMIM
608167
Clinvar variants
Variants in KCNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: KCNT1 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene KCNT1 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959 for gene: KCNT1 Publications for gene KCNT1 were changed from 23086397 to 23086397; 23086396

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: KCNT1 was added gene: KCNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNT1 were set to 23086397 Phenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Mode of pathogenicity for gene: KCNT1 was set to Other - please provide details in the comments