Developmental Brain Disorder Gene Database

LoF Variant Gene

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AR

CNTNAP2

HGNC:13830 (protein-coding gene)

contactin associated protein 2

Unique Cases:
17
Disorders:
ID, ASD, EP, CP
Last Updated:
November 4, 2024

Summary
Cases
Publications
External

Gene Summary:

DBD Genes Classification
CNTNAP2 is a High Confidence candidate gene classified as Tier AR. AR genes have autosomal recessive inheritance.
Gene Function
Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction. {ECO:0000250|UniProtKB:Q9CPW0, ECO:0000305|PubMed:33238150}. (Source: Uniprot)
Previous symbols
No previous symbols
Alias symbols
Caspr2, KIAA0868, NRXN4
Chromosomal Location
7q35-q36.1
Genomic Coordinates
GRCh37:chr7:145813453-148118090
GRCh38:chr7:146116207-148420998
Associated Disorders
Intellectual Disability, Autism, Epilepsy, Cerebral Palsy

Predictive Scores:

HI Score (Decipher)

4.94

pLI (gnomAD)

0.00

LOEUF (gnomAD)

0.55

Classifications from External Sources:

SFARI Score (SFARI)

2

DDG2P Classification (DDG2P)

Definitive

ClinGen Classification (ClinGen)

Definitive1

Disputed1

GenCC Classification (GenCC)

Definitive3 Moderate1 Supportive1 Strong1 Disputed Evidence1

Publications:

Smogavec M et. al., Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum., J Med Genet, 2016
Mikhail FM et. al., Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders., Am J Med Genet A, 2011
Boone PM et. al., Detection of clinically relevant exonic copy-number changes by array CGH., Hum Mutat, 2010
Girirajan S et. al., Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder., Am J Hum Genet, 2013
Gregor A et. al., Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1., BMC Med Genet, 2011
Long S et. al., The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children., Front Neurol, 2019
Mefford HC et. al., Rare copy number variants are an important cause of epileptic encephalopathies., Ann Neurol, 2011
Grozeva D et. al., Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability., Hum Mutat, 2015
Eriksson MA et. al., Rare copy number variants are common in young children with autism spectrum disorder., Acta Paediatr, 2015
Zarrei M et. al., De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy., Genet Med, 2018
d'Orsi G et. al., The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants., Seizure, 2017

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
gnomAD
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