Early onset or syndromic epilepsy

Gene: CNTNAP2

I don't know

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

Green List (high evidence)

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

• 16571880
• 18179893
• 27439707

Green List (high evidence)

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

Green List (high evidence)

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

Green List (high evidence)

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

Green List (high evidence)

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

Comment on list classification: Also on epileptic encephalopathy panel

Created: 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.