CNTNAP2

contactin associated protein 2
OMIM: 604569, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CNTNAP2 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 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 1.0

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

Green CNTNAP2 in Mendeliome


Version 2.0

1 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 2.0

1 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 2.0

1 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 1.0

0 reviews 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 1.0

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

Green CNTNAP2 in Fetal anomalies


Version 2.0

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

Green CNTNAP2 in Prepair 1000+


Level 2: Screening
Version 3.0

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

Red CNTNAP2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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