DEPDC5 gene related symptoms and diseases

All the information presented here about the DEPDC5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DEPDC5 gene

Symptoms // Phenotype % Cases
Seizures Common - Between 50% and 80% cases
Focal-onset seizure Common - Between 50% and 80% cases
Focal sensory seizure Common - Between 50% and 80% cases
Generalized tonic-clonic seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DEPDC5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Cortical dysplasia
  • Loss of consciousness
  • Nocturnal seizures
  • Focal cortical dysplasia type IIa
  • Focal aware seizure
  • Heterotopia
  • Psychosis
  • Autistic behavior

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to DEPDC5 gene

Here you will find a list of rare diseases related to the DEPDC5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY


Alternate names

AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY Is also known as adnfle

Description

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.

Most common symptoms of AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY

  • Intellectual disability
  • Seizures
  • Behavioral abnormality
  • Dystonia
  • Focal-onset seizure


More info about AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY

SOURCES: OMIM MESH ORPHANET

AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES


Alternate names

AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES Is also known as partial epilepsy with auditory aura, partial epilepsy with auditory features, adlte, adeaf, autosomal dominant lateral temporal lobe epilepsy, adpeaf, epilepsy, lateral temporal lobe, autosomal dominant, epilepsy, partial, with auditory features

Description

Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe epilepsy characterized by partial seizures originating from the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature (summary by Winawer et al., 2000). Genetic Heterogeneity of Temporal Lobe EpilepsySee also ETL2 (OMIM ), which maps to chromosome 12q; ETL3 (OMIM ), which maps to chromosome 4q; ETL4 (OMIM ), which maps to chromosome 9q; ETL5 (OMIM ), caused by mutation in the CPA6 gene (OMIM ) on chromosome 8q13; ETL6 (OMIM ), which maps to chromosome 3q25-q26; ETL7 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; and ETL8 (OMIM ), caused by mutation in the GAL gene (OMIM ) on chromosome 11q13.

Most common symptoms of AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES

  • Seizures
  • Generalized tonic-clonic seizures
  • Vertigo
  • Focal-onset seizure
  • Febrile seizures


More info about AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES

SOURCES: ORPHANET OMIM

FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI


Alternate names

FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI Is also known as ffevf, familial partial epilepsy with variable foci

Description

Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.


More info about FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI

SOURCES: ORPHANET

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1


Alternate names

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1 Is also known as epilepsy, familial focal, with variable foci, ffevf, fpevf, epilepsy, partial, with variable foci

Description

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete (summary by Klein et al., 2012). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD) (Baulac et al., 2015). Genetic Heterogeneity of Familial Focal Epilepsy With Variable FociSee also FFEVF2 (OMIM ), caused by mutation in the NPRL2 gene (OMIM ) on chromosome 3p21, FFEVF3 (OMIM ), caused by mutation in the NPRL3 gene (OMIM ) on chromosome 16p13, and FFEVF4 (OMIM ), caused by mutation in the SCN3A gene (OMIM ) on chromosome 2q24.

Most common symptoms of EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Autism
  • Autistic behavior


More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1

SOURCES: OMIM


Potential gene panels for DEPDC5 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

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

DEPDC5 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the DEPDC5 gene.

More info about this panel

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

EpiFirst-Focal Panel

United States.

By Ambry Genetics EpiFirst-Focal that also includes the following genes: SCN1A SCN1B DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH PRRT2 GRIN2A

More info about this panel

EpilepsyNext Panel

United States.

By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A

More info about this panel

EpiRapid reflex EpilepsyNext Panel

United States.

By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A

More info about this panel

IDNext Panel

United States.

By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2

More info about this panel

DEPDC5. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DEPDC5 gene.

More info about this panel

CHOP Epilepsy Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC6A8 SPTAN1

More info about this panel

Epilepsy, familial focal with variable foci (sequence analysis of DEPDC5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DEPDC5 gene.

More info about this panel

Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) that also includes the following genes: NPRL3 CCND2 DEPDC5 EZH2 AKT3 MTOR PIK3CA PIK3R2

More info about this panel

Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) that also includes the following genes: NPRL3 CCND2 DEPDC5 EZH2 AKT3 MTOR PIK3CA PIK3R2

More info about this panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6

More info about this panel

Familial Focal Epilepsy with Variable Foci via DEPDC5 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DEPDC5 gene.

More info about this panel

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

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

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

Familial Focal Epilepsy Panel

Germany.

By MGZ Medical Genetics Center Familial Focal Epilepsy that also includes the following genes: DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 LGI1

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

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

Epilepsy, familial focal with variable foci Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DEPDC5 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

DEPDC5 Panel

Denmark.

By Amplexa Genetics Amplexa Genetics A/S

This panel specifically test the DEPDC5 gene.

More info about this panel

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

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

Invitae Epilepsy Panel Panel

United States.

By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1

More info about this panel

EPILEPSY HEREDITARY PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EPILEPSY HEREDITARY PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H

More info about this panel

Essential Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Essential Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6

More info about this panel

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

Early-Onset Epileptic Encephalopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12

More info about this panel

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

DEPDC5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DEPDC5 gene.

More info about this panel

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

Idiopathic Generalized and Focal Epilepsy Panel Panel

Finland.

By Blueprint Genetics Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A1 CACNA1H CACNB4 CASR

More info about this panel

EPILEPSY, NOCTURNAL FRONTAL LOBE (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL EPILEPSY, NOCTURNAL FRONTAL LOBE (AUTOSOMAL DOMINANT) that also includes the following genes: DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH

More info about this panel

EPILEPSY, NOCTURNAL FRONTAL LOBE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL EPILEPSY, NOCTURNAL FRONTAL LOBE NGS PANEL that also includes the following genes: DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH

More info about this panel

Familial Focal Epilepsy with Variable Foci , Sequencing DEPDC5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DEPDC5 gene.

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 MAPK8IP3 NCAPD3 PRDM5 EMP2 GABRA1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more