Epileptic encephalopathy
Gene: CNTNAP2EnsemblGeneIds (GRCh38): ENSG00000174469
EnsemblGeneIds (GRCh37): ENSG00000174469
OMIM: 604569, Gene2Phenotype
CNTNAP2 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1
Publications
- Zweier et al (2009) Am J Hum Genet 85: 655_666
- Peippo et al (2005) Clin Dysmorphol 15: 47_54
- 16571880
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1
Publications
- Zweier et al (2009) Am J Hum Genet 85: 655_666
- Peippo et al (2005) Clin Dysmorphol 15: 47_54
- 16571880
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1
Publications
- Zweier et al (2009) Am J Hum Genet 85: 655_666
- Peippo et al (2005) Clin Dysmorphol 15: 47_54
- 16571880
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1
Publications
- Zweier et al (2009) Am J Hum Genet 85: 655 666
- Peippo et al (2005) Clin Dysmorphol 15: 47 54
- 16571880
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Reviewers and gene2phenotype both suggest high level of evidence.Created: 17 Dec 2015, 3:22 p.m.
Comment on phenotypes: Sourced from reviewers.Created: 17 Dec 2015, 3:22 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Phenotypes
-
- Cortical dysplasia-focal epilepsy syndrome
- Pitt-Hopkins like syndrome 1
- OMIM
- 604569
- Clinvar variants
- Variants in CNTNAP2
- Penetrance
- Complete
- Publications
-
- Zweier et al (2009) Am J Hum Genet 85: 655_666
- Peippo et al (2005) Clin Dysmorphol 15: 47_54
- 16571880
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CNTNAP2 were set to Zweier et al (2009) Am J Hum Genet 85: 655_666; Peippo et al (2005) Clin Dysmorphol 15: 47_54; 16571880
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)CNTNAP2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CNTNAP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CNTNAP2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)CNTNAP2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert