PanelApp
  1. Genes and Genomic Entities
  2. CNTNAP2

CNTNAP2

contactin associated protein 2
OMIM: 604569, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CNTNAP2 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

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

    Green CNTNAP2 in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.24

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

    Green CNTNAP2 in Mendeliome


    Version 2.742

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

    Green CNTNAP2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.71

    Component of the following Super Panels:

  • Progressive Neurological Conditions

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

    Green CNTNAP2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.203

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

    Green CNTNAP2 in Fetal anomalies


    Version 2.105

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

    Green CNTNAP2 in Prepair 1000+


    Level 2: Screening
    Version 3.2

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Disease associations
    • Pitt-Hopkins like syndrome 1 MIM#610042

    Red CNTNAP2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.13

    		0 reviews Unknown
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Disease associations
    • Autism spectrum disorder