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Severe Paediatric Disorders

Gene: CNTNAP2

Green List (high evidence)

CNTNAP2 (contactin associated protein like 2)
EnsemblGeneIds (GRCh38): ENSG00000174469
EnsemblGeneIds (GRCh37): ENSG00000174469
OMIM: 604569, Gene2Phenotype
CNTNAP2 is in 6 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

It is unclear why this gene has both monoallelic and biallelic inheritance for this panel when it is biallelic only for all other panels. There is a possible association with autism but gene is currently not green for that panel. I suggest inheritance is changed to biallelic only
Created: 10 Apr 2024, 9:10 a.m. | Last Modified: 10 Apr 2024, 9:10 a.m.
Panel Version: 1.184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CNTNAP2; Recommended initial gene rating: Green List (high evidence); Phenotypes: {Autism susceptibility 15}, 612100 (3) | Cortical dysplasia-focal epilepsy syndrome, 610042 (3) | Pitt-Hopkins like syndrome 1, 610042 (3); Mode of inheritance: ND | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
604569
Clinvar variants
Variants in CNTNAP2
Penetrance
None
Publications