NOL3 gene related symptoms and diseases
All the information presented here about the NOL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NOL3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Ataxia | Very Common - Between 80% and 100% cases |
| Fatigue | Very Common - Between 80% and 100% cases |
| Myoclonus | Very Common - Between 80% and 100% cases |
| Falls | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NOL3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Frequent falls
- Loss of consciousness
- Cortical myoclonus
Rare diseases associated to NOL3 gene
Here you will find a list of rare diseases related to the NOL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL CORTICAL MYOCLONUS
Description
Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.
Most common symptoms of FAMILIAL CORTICAL MYOCLONUS
- Seizures
- Ataxia
- Fatigue
- Myoclonus
- Falls
More info about FAMILIAL CORTICAL MYOCLONUS
Search interest in NOL3
Potential gene panels for NOL3 gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Progressive Myoclonic Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Progressive Myoclonic Epilepsy that also includes the following genes: SGCE CACNB4 NPC2 CASR EFHC1 SCARB2 PRICKLE1 PRICKLE2 TPP1 CLN3
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Myoclonus, familial cortical Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NOL3 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Single gene testing NOL3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the NOL3 gene.
More info about this panel Germany.
NOL3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NOL3 gene.
More info about this panel United States.
Ataxia Panel Panel
Finland.
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panel Finland.
PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN9A SGCE SLC6A1 STXBP1 CACNB4 CERS1 PCDH19
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HLX-AS1 ADD3 EDA2R ANKK1 MTMR2 CACNA1D IL17RC