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Intellectual disability syndromic and non-syndromic

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Affected children present with seizures, delayed myelination, and developmental delays. Variants have been reported in 8 probands so far.

Classified as Definitive by Epilepsy GCEP on 16/08/2022 - https://search.clinicalgenome.org/CCID:005216
Created: 20 Oct 2024, 10:43 p.m. | Last Modified: 20 Oct 2024, 10:43 p.m.
Panel Version: 0.6528

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
childhood-onset epilepsy syndrome MONDO:0020072

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Developmental and epileptic encephalopathy MIM#614959
  • childhood-onset epilepsy syndrome MONDO:0020072
OMIM
608167
Clinvar variants
Variants in KCNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Oct 2024, 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).

22 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNT1 were changed from to Developmental and epileptic encephalopathy MIM#614959; childhood-onset epilepsy syndrome MONDO:0020072

22 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNT1 were set to

22 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNT1 was added gene: KCNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNT1 was set to Unknown