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.
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
Search interest in GLRA1
Potential gene panels for GLRA1 gene
GLRA1. Complete sequencing Panel

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

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

By CGC Genetics
This panel specifically test the GLRA1 gene.
More info about this panel
Hyperekplexia (NGS panel for 7 genes) Panel

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

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

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

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

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

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

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

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

By Centogene AG - the Rare Disease Company
This panel specifically test the GLRA1 gene.
More info about this panel
AllNeuro panel Panel

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

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

By CeGaT GmbH
This panel specifically test the GLRA1 gene.
More info about this panel
GLRA1-Related Hyperekplexia Panel

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the GLRA1 gene.
More info about this panel
Hyperekplexia Panel

By Praxis fuer Humangenetik Wien
This panel specifically test the GLRA1 gene.
More info about this panel
Hyperekplexia Panel

By MedGene
This panel specifically test the GLRA1 gene.
More info about this panel
Invitae Epilepsy Panel Panel

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

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

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

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

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

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

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

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

By Fulgent Genetics Fulgent Genetics
This panel specifically test the GLRA1 gene.
More info about this panel
Comprehensive Epilepsy NGS Panel Panel

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

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

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

By Bioarray
This panel specifically test the GLRA1 gene.
More info about this panel
Hyperekplexia NGS and Deletion/Duplication Panel Panel

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

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

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

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

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

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

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

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

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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