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  2. Familial Focal Epilepsies
  3. CNTNAP2
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Familial Focal Epilepsies

Gene: CNTNAP2

Green List (high evidence)
CNTNAP2 (contactin associated protein like 2)
EnsemblGeneIds (GRCh38): ENSG00000174469
EnsemblGeneIds (GRCh37): ENSG00000174469
OMIM: 604569, Gene2Phenotype
CNTNAP2 is in 4 panels

1 review

Richard Scott (Genomics England Curator)

Comment on list classification: Also on epileptic encephalopathy panel
Created: 8 Feb 2016, 2:50 a.m.
Created: 8 Feb 2016, 2:50 a.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cortical Dysplasia-Focal Epilepsy Syndrome
OMIM
604569
Clinvar variants
Variants in CNTNAP2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for CNTNAP2 were set to 16571880

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

CNTNAP2 was added to Familial focal epilepsypanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CNTNAP2 was added to Familial focal epilepsypanel. Sources: Illumina TruGenome Clinical Sequencing Services