1. Mendelian
  2. Rare Disease Genes
  3. PRDM8

PRDM8 gene related symptoms and diseases

All the information presented here about the PRDM8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PRDM8 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Generalized myoclonic seizures Very Common - Between 80% and 100% cases
Paranoia Very Common - Between 80% and 100% cases
Spastic ataxia Very Common - Between 80% and 100% cases
Mutism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PRDM8 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Spastic tetraparesis
  • Hallucinations
  • Frequent falls
  • Psychosis
  • Spastic tetraplegia
  • Urinary incontinence
  • Progressive cerebellar ataxia
  • Ataxia

And 11 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PRDM8 gene

Here you will find a list of rare diseases related to the PRDM8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


EARLY-ONSET LAFORA BODY DISEASE

Description

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Most common symptoms of EARLY-ONSET LAFORA BODY DISEASE

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


More info about EARLY-ONSET LAFORA BODY DISEASE

SOURCES: ORPHANET OMIM


Potential gene panels for PRDM8 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.

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.

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.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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