1. Genes and Genomic Entities
  2. CNTNAP2

CNTNAP2

contactin associated protein like 2
OMIM: 604569, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber CNTNAP2 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
Green CNTNAP2 in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME
Green CNTNAP2 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042
    Green CNTNAP2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • UKGTN
    • Expert
    • Expert Review Green
    Phenotypes
    • Cortical dysplasia-focal epilepsy syndrome
    • Pitt-Hopkins like syndrome 1
    Green CNTNAP2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Cortical dysplasia-focal epilepsy syndrome, 610042{Autism susceptibility 15}, 612100Pitt-Hopkins like syndrome 1, 610042
    • CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME (CDFES)
    Green CNTNAP2 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cortical dysplasia-focal epilepsy syndrome, 610042
    • Pitt-Hopkins like syndrome 1, 610042
    • {Autism susceptibility 15}, 612100