Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: KANSL1

Green List (high evidence)

KANSL1 (KAT8 regulatory NSL complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000120071
EnsemblGeneIds (GRCh37): ENSG00000120071
OMIM: 612452, Gene2Phenotype
KANSL1 is in 11 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

GeneReviews: describes seizures/epilepsy as a less common trait, where OMIM notes its in 50% of cases.

PMID: 28440867 - Median age at seizure onset was 3.5 years, and 9 of 22 had refractory seizures 2 years after onset. Focal impaired awareness seizures were the most frequent seizure type occurring in 20 of 31, usually with prominent autonomic features.
Sources: Literature
Created: 25 Jan 2024, 3:41 a.m.

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

Phenotypes
Koolen-De Vries syndrome MIM#610443

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Koolen-De Vries syndrome MIM#610443
OMIM
612452
Clinvar variants
Variants in KANSL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: kansl1 has been classified as Green List (High Evidence).

25 Jan 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: kansl1 has been classified as Red List (Low Evidence).

25 Jan 2024, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: KANSL1 was added gene: KANSL1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KANSL1 were set to PMID: 28440867 Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome MIM#610443 Review for gene: KANSL1 was set to GREEN