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Intellectual_disability

Gene: CNTNAP2

Green List (high evidence)
CNTNAP2 (contactin associated protein like 2)
EnsemblGeneIds (GRCh38): ENSG00000174469
EnsemblGeneIds (GRCh37): ENSG00000174469
OMIM: 604569, Gene2Phenotype
CNTNAP2 is in 4 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome, 610042{Autism susceptibility 15}, 612100Pitt-Hopkins like syndrome 1, 610042
  • Intellectual disability
OMIM
604569
Clinvar variants
Variants in CNTNAP2
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CNTNAP2 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)

CNTNAP2 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)

CNTNAP2 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)

CNTNAP2 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen