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.

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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

SOURCES: OMIM ORPHANET

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


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

Hyperekplexia 3 (sequence analysis of SLC6A5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC6A5 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

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

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

Hyperekplexia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC6A5 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 SLC6A5 Panel

Germany.

By CeGaT GmbH

This panel specifically test the SLC6A5 gene.

More info about this panel

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

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: 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

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

SLC6A5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC6A5 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 3 Panel

Spain.

By Bioarray

This panel specifically test the SLC6A5 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

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

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 SLC6A5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC6A5 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


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