PanelApp (stage)
  1. Genes and Genomic Entities
  2. CNTNAP2

CNTNAP2

contactin associated protein like 2
OMIM: 604569, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green CNTNAP2 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.48

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Cortical dysplasia-focal epilepsy syndrome, MIM# 610042

    Green CNTNAP2 in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.198

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CNTNAP2 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia-focal epilepsy syndrome, MIM# 610042

    Green CNTNAP2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia-focal epilepsy syndrome, MIM# 610042

    Green CNTNAP2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Cortical dysplasia-focal epilepsy syndrome, MIM# 610042

    Green CNTNAP2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cortical dysplasia-focal epilepsy syndrome, 610042 (3)

    Red CNTNAP2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review Unknown
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Autism spectrum disorder

    Green CNTNAP2 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Cortical dysplasia-focal epilepsy syndrome, MIM# 610042

    Green CNTNAP2 in Focal Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.14

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • GREP
    • Expert Review Green
    Phenotypes
    • Cortical dysplasia-focal epilepsy syndrome
    • Pitt-Hopkins like syndrome 1

    Green CNTNAP2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cortical dysplasia-focal epilepsy syndrome, 610042 (3)

    Red CNTNAP2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review Unknown
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Autism spectrum disorder