Early onset or syndromic epilepsy
Gene: CNTNAP2
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR Pitt-Hopkins like syndrome 1/cortical dysplasia-focal epilepsy syndrome. Most patients have onset of seizures in first year of life. Strauss et al, 2006 - hom 1bp del in 13 patients from 10 sibships (Amish). Zweier et al, 2009 - hom or compound het variants in 2 sibs and 1 unrelated child. Smogavec et al, 2016 - 8 patients from 6 unrelated families hom or compund het truncatingmutations and/or intragenic deletions. The patients were ascertained from different genetic or pediatric centres worldwide. Carrier parents - unaffected. No functional studies done - predict LOF.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia-focal epilepsy syndrome,610042; Pitt-Hopkins like syndrome 1,610042; {Autism susceptibility 15},612100
Publications
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 on list classification: Also on epileptic encephalopathy panelCreated: 8 Feb 2016, 2:50 a.m.
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.
Source Wessex and West Midlands GLH was added to CNTNAP2.
Source NHS GMS was added to CNTNAP2.
Ellen McDonagh: Comment on phenotypes: Sourced
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CNTNAP2. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to CNTNAP2. Panel: Genetic Epilepsy Syndromes
CNTNAP2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN
CNTNAP2 was created by Sarah Leigh