NECAP1 gene related symptoms and diseases
All the information presented here about the NECAP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NECAP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Epileptic encephalopathy | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Hypertonia | Very Common - Between 80% and 100% cases |
| Encephalopathy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NECAP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Muscular hypotonia of the trunk
- Seizures
Not very common - Between 30% and 50% cases
- Intellectual disability
- Brain atrophy
- Feeding difficulties
- Focal clonic seizures
- Multifocal seizures
- Involuntary movements
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NECAP1 gene
Here you will find a list of rare diseases related to the NECAP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
Alternate names
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee
Most common symptoms of UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21
Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21
- Seizures
- Global developmental delay
- Generalized hypotonia
- Feeding difficulties
- Hypertonia
More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21
SOURCES: OMIM
Search interest in NECAP1
Potential gene panels for NECAP1 gene
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Early Infantile Epileptic Encephalopathy Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Early Infantile Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel United States.
Epilepsy Panel - Comprehensive Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5
More info about this panel Argentina.
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel United States.
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.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Early infantile epileptic encephalopathy type 21 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NECAP1 gene.
More info about this panel Germany.
Epilepsy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panel Estonia.
NECAP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NECAP1 gene.
More info about this panel United States.
Epileptic Encephalopathy Panel Panel
Finland.
By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
INFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL INFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL that also includes the following genes: SCN1A SCN2A SCN8A SPTAN1 CDKL5 STXBP1 PCDH19 ARHGEF9 PLCB1 ARX
More info about this panel Spain.
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