CNTN2 gene related symptoms and diseases
All the information presented here about the CNTN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CNTN2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Myoclonus | Very Common - Between 80% and 100% cases |
| Tremor | Very Common - Between 80% and 100% cases |
| Generalized tonic-clonic seizures | Very Common - Between 80% and 100% cases |
| Focal-onset seizure | Very Common - Between 80% and 100% cases |
| Generalized-onset seizure | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CNTN2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Seizures
Not very common - Between 30% and 50% cases
- Intellectual disability
- Amaurosis fugax
- Muscle fibrillation
- Focal impaired awareness seizure
- Enhancement of the C-reflex
- Jerk-locked premyoclonus spikes
- EEG with irregular generalized spike and wave complexes
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CNTN2 gene
Here you will find a list of rare diseases related to the CNTN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY
Alternate names
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY Is also known as adcme, bafme, benign adult familial myoclonic epilepsy 1, autosomal dominant cortical myoclonus and epilepsy, fame, cortical myoclonic tremor with epilepsy, familial, 1, familial adult myoclonic epilepsy, benign adult familial myoclonus epilepsy, familial cortica
Description
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.
Most common symptoms of BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY
- Intellectual disability
- Seizures
- Ataxia
- Tremor
- Headache
More info about BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5
Alternate names
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5 Is also known as fcmte5, cortical myoclonic tremor with epilepsy, familial, 5
Description
Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by Stogmann et al., 2013).
Most common symptoms of EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5
- Seizures
- Tremor
- Myoclonus
- Generalized tonic-clonic seizures
- Focal-onset seizure
More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5
SOURCES: OMIM
Search interest in CNTN2
Potential gene panels for CNTN2 gene
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
Idiopathic Generalized and Focal Epilepsy Panel Panel
Germany.
By CeGaT GmbH Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC1A3 SLC2A1 CACNA1A CACNA1H CACNB4
More info about this panel Germany.
Idiopathic Generalized Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Idiopathic Generalized Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC9A6 SMC1A KDM5C CDKL5
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
CNTN2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CNTN2 gene.
More info about this panel United States.
Benign Adult Familial Myoclonic Epilepsy , Panel Sequencing CNTN2, ADRA2B Genes Panel
Spain.
By Reference Laboratory Genetics Benign Adult Familial Myoclonic Epilepsy , Panel Sequencing CNTN2, ADRA2B Genes that also includes the following genes: CNTN2 ADRA2B
More info about this panel Spain.
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