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Intellectual_disability

Gene: KCNT1

Red List (low evidence)

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

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 14, 614959Epilepsy, nocturnal frontal lobe, 5, 615005
OMIM
608167
Clinvar variants
Variants in KCNT1
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNT1 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen