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  3. KCNT1
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Cerebral Palsy

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 7 panels

2 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

1 additional individual with mono-allelic LP missense variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Created: 27 May 2024, 6:30 a.m. | Last Modified: 27 May 2024, 6:30 a.m.
Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy MIM#614959

Publications

Created: 27 May 2024, 6:30 a.m.
Last Modified: 27 May 2024, 6:30 a.m.
Panel version: 1.193

Luisa Weiss (University of Adelaide)

Green List (high evidence)

4 cases in two large CP cohort studies. All of them are missense mutations, mostly confirmed de novo mutations.
Sources: Literature
Created: 8 Jun 2023, 2:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy MIM#614959

Publications

Created: 8 Jun 2023, 2:59 a.m.

Panel version: 1.86

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy MIM#614959
OMIM
608167
Clinvar variants
Variants in KCNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnt1 has been classified as Green List (High Evidence).

10 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnt1 has been classified as Green List (High Evidence).

8 Jun 2023, Gel status: 0

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

Luisa Weiss (University of Adelaide)

gene: KCNT1 was added gene: KCNT1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNT1 were set to 33528536; 34788679 Phenotypes for gene: KCNT1 were set to Developmental and epileptic encephalopathy MIM#614959 Review for gene: KCNT1 was set to GREEN