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Genetic epilepsy syndromes

Gene: CNTNAP2

Green List (high evidence)

CNTNAP2 (contactin associated protein like 2)
EnsemblGeneIds (GRCh38): ENSG00000174469
EnsemblGeneIds (GRCh37): ENSG00000174469
OMIM: 604569, Gene2Phenotype
CNTNAP2 is in 5 panels

8 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Amy McTague (UCL Institute of Child Health)

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

Natalie Trump (NHS - Great Ormond Street Hospital)

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

Manju Kurian (UCL-Institute of Child Health)

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

Richard Scott (North Thames GMC/UCL)

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

Richard Scott (Genomics England Curator)

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

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome
  • Pitt-Hopkins like syndrome 1
OMIM
604569
Clinvar variants
Variants in CNTNAP2
Penetrance
None
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

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CNTNAP2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CNTNAP2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on phenotypes: Sourced

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CNTNAP2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CNTNAP2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

CNTNAP2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

CNTNAP2 was created by Sarah Leigh