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Epileptic encephalopathy

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

5 reviews

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

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Reviewers and gene2phenotype both suggest high level of evidence.
17 Dec 2015, 3:22 p.m.
Comment on phenotypes: Sourced from reviewers.
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

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1

17 Dec 2015, Gel status: 4

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

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

CNTNAP2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CNTNAP2 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CNTNAP2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CNTNAP2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert