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  3. KANSL1
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Intellectual_disability

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 6 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Koolen-De Vries syndrome, 610443
  • Intellectual Disability Syndrome
  • Intellectual disability
OMIM
612452
Clinvar variants
Variants in KANSL1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KANSL1 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KANSL1 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KANSL1 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KANSL1 was added to Intellectual_disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen