1. Mendelian
  2. Genes
  3. SLC1A2

SLC1A2 gene related symptoms and diseases

All the information presented here about the SLC1A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SLC1A2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Epileptic encephalopathy Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC1A2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Spasticity
  • Seizures
  • Absent speech

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

  • Kyphoscoliosis
  • Developmental regression
  • Irritability
  • Lethargy
  • Abnormality of movement

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SLC1A2 gene

Here you will find a list of rare diseases related to the SLC1A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Alternate names

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Most common symptoms of UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

SOURCES: OMIM ORPHANET

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

SOURCES: OMIM


Potential gene panels for SLC1A2 gene

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel
United States.

SLC1A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC1A2 gene.

More info about this panel
United States.

Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SCN1A SCN2A SCN8A SCN9A ST3GAL3 SLC1A2 SLC25A12 SPTAN1 CDKL5 STXBP1

More info about this panel
Spain.

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