SLC6A5 gene related symptoms and diseases
All the information presented here about the SLC6A5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC6A5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Exaggerated startle response | Very Common - Between 80% and 100% cases |
| Apnea | Very Common - Between 80% and 100% cases |
| Hypertonia | Very Common - Between 80% and 100% cases |
| Muscle stiffness | Very Common - Between 80% and 100% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC6A5 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Congenital hip dislocation
- Epileptic encephalopathy
- Frequent falls
- Aspiration
- Fasciculations
- Myotonia
- Joint dislocation
- Falls
And 26 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC6A5 gene
Here you will find a list of rare diseases related to the SLC6A5. 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
HYPEREKPLEXIA 3; HKPX3
Most common symptoms of HYPEREKPLEXIA 3; HKPX3
- Hypertonia
- Apnea
- Muscle stiffness
- Exaggerated startle response
More info about HYPEREKPLEXIA 3; HKPX3
SOURCES: OMIM
Search interest in SLC6A5
Potential gene panels for SLC6A5 gene
SLC6A5. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC6A5 gene.
More info about this panel Spain.
Hyperekplexia 3 (sequence analysis of SLC6A5 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC6A5 gene.
More info about this panel Portugal.
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 Portugal.
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.
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 Germany.
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 Germany.
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 Germany.
Glycine transporter 2 deficiency (SLC6A5) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the SLC6A5 gene.
More info about this panel Netherlands.
Hyperekplexia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC6A5 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
Single gene testing SLC6A5 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SLC6A5 gene.
More info about this panel Germany.
SLC6A5-Related Hyperekplexia Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the SLC6A5 gene.
More info about this panel Germany.
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 United States.
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 United States.
Startle syndrome: SLC6A5 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC6A5 gene.
More info about this panel Spain.
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 Spain.
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 United States.
SLC6A5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC6A5 gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Finland.
Hereditary hyperekplexia type 3 Panel
Spain.
By Bioarray
This panel specifically test the SLC6A5 gene.
More info about this panel Spain.
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 United States.
SLC6A5 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 SLC6A5 gene.
More info about this panel United States.
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 Spain.
Startle Disease , Sequencing SLC6A5 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC6A5 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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