GABRD gene related symptoms and diseases

All the information presented here about the GABRD 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 GABRD gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Absence seizures Common - Between 50% and 80% cases
Generalized tonic-clonic seizures Common - Between 50% and 80% cases
Generalized myoclonic seizures Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with GABRD gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Febrile seizures
  • Not very common - Between 30% and 50% cases

  • Focal-onset seizure
  • Aggressive behavior
  • Generalized-onset seizure
  • Rarely - Less than 30% cases

  • Abnormal lung lobation
  • Foot polydactyly
  • Spinal canal stenosis
  • Aortic root aneurysm

And 253 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GABRD gene

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


1P36 DELETION SYNDROME


Alternate names

1P36 DELETION SYNDROME Is also known as del(1)(p36), monosomy 1p36, monosomy 1pter, deletion 1pter, deletion 1p36, monosomy 1p36 syndrome, subtelomeric 1p36 deletion

Description

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

Most common symptoms of 1P36 DELETION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about 1P36 DELETION SYNDROME

SOURCES: ORPHANET OMIM MESH

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS


Alternate names

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS Is also known as gefs+1, gefs+, gefs+, type 1

Description

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).

Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

  • Intellectual disability
  • Seizures
  • Fever
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures


More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

SOURCES: OMIM ORPHANET MESH

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10


Description

Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of EIG, see {600669}.For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.For a general phenotypic description and a discussion of genetic heterogeneity of EJM, see {254770}.

Most common symptoms of EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10

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


More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10

SOURCES: OMIM

JUVENILE MYOCLONIC EPILEPSY


Alternate names

JUVENILE MYOCLONIC EPILEPSY Is also known as janz syndrome, juvenile myoclonus epilepsy, jme, myoclonic epilepsy, juvenile, petit mal, impulsive

Description

Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).

Most common symptoms of JUVENILE MYOCLONIC EPILEPSY

  • Intellectual disability
  • Seizures
  • Depressivity
  • Myoclonus
  • Aggressive behavior


More info about JUVENILE MYOCLONIC EPILEPSY

SOURCES: OMIM ORPHANET


Potential gene panels for GABRD 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

SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SCN1A SCN1B SCN9A GABRD GABRG2

More info about this panel

GABRD. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GABRD gene.

More info about this panel

Epilepsy, idiopathic generalized type 10 (sequence analysis of GABRD gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GABRD gene.

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

Juvenile Myoclonic Epilepsy (JME) Panel

Germany.

By MGZ Medical Genetics Center Juvenile Myoclonic Epilepsy (JME) that also includes the following genes: EFHC1 GABRD

More info about this panel

GABRD-Related Juvenile Myoclonic Epilepsy Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the GABRD gene.

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

Epileptic Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1

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

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

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

Febrile Seizures Panel

Germany.

By MGZ Medical Genetics Center Febrile Seizures that also includes the following genes: SCN1A SCN1B SCN2A PCDH19 STX1B GABRA1 GABRD HCN1

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

Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel that also includes the following genes: SCN1A SCN1B SCN2A SCN9A PCDH19 ADGRV1 CLCN2 TBC1D24 GABRD GABRG2

More info about this panel

IGE/JME/CAE panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht IGE/JME/CAE panel that also includes the following genes: SLC2A1 BRD2 CACNA1H CACNB4 CASR EFHC1 CLCN2 GABRA1 GABRB3 GABRD

More info about this panel

Generalized epilepsy with febrile seizures plus type 5 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GABRD gene.

More info about this panel

Epilepsy, idiopathic generalized type 10 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GABRD 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

GABRD Panel

Denmark.

By Amplexa Genetics Amplexa Genetics A/S

This panel specifically test the GABRD 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

Generalized epilepsy with febrile seizures plus Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Generalized epilepsy with febrile seizures plus that also includes the following genes: SCN1A SCN1B SCN2A SCN9A GABRD GABRG2

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

Epilepsy, generalized with febrile seizures plus (GEFS+) 5 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GABRD gene.

More info about this panel

Epilepsy, idiopathic generalized, 10 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GABRD gene.

More info about this panel

Epilepsy, juvenile myoclonic 7 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GABRD gene.

More info about this panel

Epilepsy, generalized with febrile seizures plus (GEFS+) 5 Panel

Slovakia.

By MedGene

This panel specifically test the GABRD gene.

More info about this panel

Epilepsy, idiopathic generalized, 10 Panel

Slovakia.

By MedGene

This panel specifically test the GABRD gene.

More info about this panel

Epilepsy, juvenile myoclonic 7 Panel

Slovakia.

By MedGene

This panel specifically test the GABRD gene.

More info about this panel

DRAVET, SYNDROME & MIOCLONIC EPILEPSY Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DRAVET, SYNDROME & MIOCLONIC EPILEPSY that also includes the following genes: SCN1A SCN1B SCN2A SCN9A CACNB4 PCDH19 EFHC1 CHRNA7 NHLRC1 EPM2A

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

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

GABRD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GABRD gene.

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

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type V Panel

Spain.

By Bioarray

This panel specifically test the GABRD gene.

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

Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H

More info about this panel

Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SCN1A SCN1B SCN9A GABRD GABRG2

More info about this panel

Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel

Spain.

By Reference Laboratory Genetics Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes that also includes the following genes: RYR1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A ST3GAL3 ST3GAL5 SPTAN1

More info about this panel


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