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
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: ORPHANET OMIM


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

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

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

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

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

Myoclonus, familial cortical Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NOL3 gene.

More info about this panel

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

Single gene testing NOL3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the NOL3 gene.

More info about this panel

NOL3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NOL3 gene.

More info about this panel

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ASAH1 ALG3 RAD51D DVL3 CA12 FOXO1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more