GLRA1 gene related symptoms and diseases

All the information presented here about the GLRA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GLRA1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Joint dislocation Very Common - Between 80% and 100% cases
Sleep disturbance Very Common - Between 80% and 100% cases
Epileptic encephalopathy Very Common - Between 80% and 100% cases
Frequent falls Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GLRA1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Aspiration
  • Fasciculations
  • Muscle stiffness
  • Congenital hip dislocation
  • Myotonia
  • Abnormality of movement
  • Loss of consciousness
  • Hypokinesia

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GLRA1 gene

Here you will find a list of rare diseases related to the GLRA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY HYPEREKPLEXIA


Alternate names

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia, familial startle disease, kok disease, startle disease, familial, stiff baby syndrome, exaggerated startle reaction, sthe, congenital stiff man syndrome, stiff-baby syndrome, stiff-person syndrome, congenital, startle reaction, exaggerated

Description

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

Most common symptoms of HEREDITARY HYPEREKPLEXIA

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


More info about HEREDITARY HYPEREKPLEXIA

SOURCES: OMIM ORPHANET


Potential gene panels for GLRA1 gene

GLRA1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GLRA1 gene.

More info about this panel

Hyperekplexia, hereditary 1 (sequence analysis of GLRA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GLRA1 gene.

More info about this panel

Hyperekplexia, hereditary 1 (deletion/duplication analysis of GLRA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GLRA1 gene.

More info about this panel

Hyperekplexia (NGS panel for 7 genes) Panel

Portugal.

By CGC Genetics Hyperekplexia (NGS panel for 7 genes) that also includes the following genes: SLC6A5 ARHGEF9 GPHN FKTN GLRA1 GLRB ASNS

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

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

Hyperekplexia Panel

Germany.

By MGZ Medical Genetics Center Hyperekplexia that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB

More info about this panel

Newborn: Neonatal Apneas Panel

Germany.

By MGZ Medical Genetics Center Newborn: Neonatal Apneas that also includes the following genes: SCN4A SLC6A5 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ LAS1L GLRA1

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Metabolic disease with epilepsy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Metabolic disease with epilepsy panel that also includes the following genes: SLC2A1 GPHN DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CPT2 CTSD

More info about this panel

Hyperekplexia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Hyperekplexia panel that also includes the following genes: SLC6A2 ARHGEF9 GPHN GLRA1 GLRB

More info about this panel

Hyperekplexia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GLRA1 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

Hyperekplexia Panel Panel

Germany.

By CeGaT GmbH Hyperekplexia Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB

More info about this panel

Single gene testing GLRA1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the GLRA1 gene.

More info about this panel

GLRA1-Related Hyperekplexia Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the GLRA1 gene.

More info about this panel

Hyperekplexia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GLRA1 gene.

More info about this panel

Hyperekplexia Panel

Slovakia.

By MedGene

This panel specifically test the GLRA1 gene.

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

Invitae Hereditary Hyperekplexia Panel Panel

United States.

By Invitae Invitae Hereditary Hyperekplexia Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN CLPB GLRA1 GLRB

More info about this panel

Invitae Neurotransmitter Disorders Panel Panel

United States.

By Invitae Invitae Neurotransmitter Disorders Panel that also includes the following genes: SLC6A3 SLC6A5 SPR TH ARHGEF9 GPHN PSAT1 SLC25A22 ABAT DBH

More info about this panel

Startle syndrome: GLRA1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GLRA1 gene.

More info about this panel

Startle syndrome: GLRA1, GLRB and SLC6A5 genes deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Startle syndrome: GLRA1, GLRB and SLC6A5 genes deletions-duplications analysis (MLPA) that also includes the following genes: SLC6A5 GLRA1 GLRB

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

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

GLRA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GLRA1 gene.

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

Central Hypoventilation and Apnea Panel Panel

Finland.

By Blueprint Genetics Central Hypoventilation and Apnea Panel that also includes the following genes: SCN4A SLC6A5 ZEB2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ EDN3

More info about this panel

Comprehensive Pulmonology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7

More info about this panel

Hereditary hyperekplexia type 1 Panel

Spain.

By Bioarray

This panel specifically test the GLRA1 gene.

More info about this panel

Hyperekplexia NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hyperekplexia NGS and Deletion/Duplication Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB

More info about this panel

GLRA1 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the GLRA1 gene.

More info about this panel

HYPEREKPLEXIA, HEREDITARY Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPEREKPLEXIA, HEREDITARY that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB

More info about this panel

Startle Disease , Sequencing GLRA1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GLRA1 gene.

More info about this panel

Startle Disease , Deletions-Duplications (MLPA) GLRA1,GLRB,SLC6A5 Genes Panel

Spain.

By Reference Laboratory Genetics Startle Disease , Deletions-Duplications (MLPA) GLRA1,GLRB,SLC6A5 Genes that also includes the following genes: SLC6A5 GLRA1 GLRB

More info about this panel

Startle Disease , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Startle Disease , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB

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

Hereditary Hyperekplexia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Hyperekplexia: gene sequencing panel that also includes the following genes: ARHGEF9 GPHN GLRA1 GLRB

More info about this panel

Hereditary Hyperekplexia: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Hyperekplexia: gene deletion/duplication that also includes the following genes: ARHGEF9 GPHN GLRA1 GLRB

More info about this panel


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