Epileptic encephalopathy
Gene: CNTNAP2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1
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
The Gel status was updated for this whole panel
CNTNAP2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene CNTNAP2 was changed to BIALLELIC, autosomal or pseudoautosomal
CNTNAP2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
CNTNAP2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert