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Genetic epilepsy syndromes

Gene: CNTN2

Red List (low evidence)

CNTN2 (contactin 2)
EnsemblGeneIds (GRCh38): ENSG00000184144
EnsemblGeneIds (GRCh37): ENSG00000184144
OMIM: 190197, Gene2Phenotype
CNTN2 is in 1 panel

2 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: Amber.
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)

I don't know

AR familial myoclonic epilepsy 5 - neurological condition characterised by onset of seizures in adolescence followed by the development of cortical myocolonic tremor later in life. Some aptients also have neuropsychiatric abnormalities. Stogmann et al, 2013 - consanf Egyptian family - 5 sibs aged 11-14 - onset of seizures - different types incl complex partial and generalised. All had a hom fs mutation. Not in controls and not in 189 patients with various epilepsy syndromes. On HGMD pro missense variats in this gene reported in assoc with hypogonadotrophic hypogonadism and a missense variant assoc with congenital heart disease.
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
?Epilepsy, myoclonic, familial adult, 5, 615400

Publications

Details

Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial adult myoclonic, 5
OMIM
190197
Clinvar variants
Variants in CNTN2
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CNTN2.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CNTN2.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotypes in

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CNTN2 was added to Genetic Epilepsy Syndromes panel. Sources: Radboud University Medical Center, Nijmegen

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CNTN2 was created by Sarah Leigh