SLC1A3 gene related symptoms and diseases

All the information presented here about the SLC1A3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC1A3 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Hemiplegia Very Common - Between 80% and 100% cases
Headache Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Migraine Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC1A3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Slurred speech
  • Hemiparesis
  • Dysphagia
  • Fatigue
  • Nystagmus
  • Gaze-evoked nystagmus
  • Phonophobia
  • Diplopia

And 58 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SLC1A3 gene

Here you will find a list of rare diseases related to the SLC1A3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


EPISODIC ATAXIA TYPE 6

Description

Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.

Most common symptoms of EPISODIC ATAXIA TYPE 6

  • Seizures
  • Ataxia
  • Cerebellar atrophy
  • Headache
  • Reduced visual acuity


More info about EPISODIC ATAXIA TYPE 6

SOURCES: ORPHANET

EPISODIC ATAXIA, TYPE 6; EA6

Most common symptoms of EPISODIC ATAXIA, TYPE 6; EA6

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Motor delay


More info about EPISODIC ATAXIA, TYPE 6; EA6

SOURCES: OMIM

ALTERNATING HEMIPLEGIA OF CHILDHOOD

Alternate names

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Description

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

Most common symptoms of ALTERNATING HEMIPLEGIA OF CHILDHOOD

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

SOURCES: ORPHANET OMIM


Potential gene panels for SLC1A3 gene

Episodic Ataxia Evaluation Panel

United States.

By Athena Diagnostics Inc Episodic Ataxia Evaluation that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1

More info about this panel
United States.

Ataxia, Comprehensive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA

More info about this panel
United States.

Ataxia, Supplemental Dominant Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Supplemental Dominant Evaluation that also includes the following genes: SLC1A3 SPTBN2 VAMP1 CACNA1A CACNB4 TGM6 TTBK2 AFG3L2 EEF2 FGF14

More info about this panel
United States.

Ataxia, Complete Dominant Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Complete Dominant Evaluation that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP VAMP1 CACNA1A

More info about this panel
United States.

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

Episodic Ataxia type 6 Panel

Italy.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR

This panel specifically test the SLC1A3 gene.

More info about this panel
Italy.

SLC1A3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SLC1A3 gene.

More info about this panel
Spain.

KCNA1, CACNA1A, CACNB4, SLC1A3. NextGeneDx. Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica KCNA1, CACNA1A, CACNB4, SLC1A3. NextGeneDx. Complete sequencing by NGS that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1

More info about this panel
Spain.

Episodic ataxia type 6 (EA6, sequence analysis of SLC1A3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC1A3 gene.

More info about this panel
Portugal.

Hereditary ataxias (NGS panel for 44 genes) Panel

Portugal.

By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12

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.

Ataxia Panel

Germany.

By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3

More info about this panel
Germany.

Episodic Ataxia and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Episodic Ataxia and Phenocopies that also includes the following genes: SLC1A3 SLC22A5 SLC25A15 SLC2A1 CACNA1A CACNA1C CACNB4 ABHD5 CPT2 DARS2

More info about this panel
Germany.

Episodic ataxia type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC1A3 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.

Idiopathic Generalized and Focal Epilepsy Panel Panel

Germany.

By CeGaT GmbH Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC1A3 SLC2A1 CACNA1A CACNA1H CACNB4

More info about this panel
Germany.

Migraine Panel Panel

Germany.

By CeGaT GmbH Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG

More info about this panel
Germany.

Episodic Ataxia Panel Panel

Germany.

By CeGaT GmbH Episodic Ataxia Panel that also includes the following genes: SLC1A3 SLC2A1 CACNA1A CACNB4 FGF14 KCNA1 KCNQ2

More info about this panel
Germany.

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel
Germany.

Single gene testing SLC1A3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the SLC1A3 gene.

More info about this panel
Germany.

Ataxia, autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal dominant and X-linked Panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPG7 SPTBN2 TBP VAMP1 VLDLR

More info about this panel
Germany.

Episodic ataxia type 6: SLC1A3 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SLC1A3 gene.

More info about this panel
Spain.

Episodic ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Episodic ataxia that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1

More info about this panel
Spain.

Spinocerebellar ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR

More info about this panel
Spain.

Ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1

More info about this panel
Spain.

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel
United States.

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel
United States.

SLC1A3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC1A3 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.

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel
Finland.

Migraine Panel Panel

Finland.

By Blueprint Genetics Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG

More info about this panel
Finland.

Episodic ataxia type 6 Panel

Spain.

By Bioarray

This panel specifically test the SLC1A3 gene.

More info about this panel
Spain.

EPISODIC ATAXIA TYPE 6 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SLC1A3 gene.

More info about this panel
Spain.

EPISODIC ATAXIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL EPISODIC ATAXIA NGS PANEL that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1

More info about this panel
Spain.

Episodic ataxia panel Panel

Canada.

By LifeLabs Genetics Episodic ataxia panel that also includes the following genes: SLC1A3 CACNB4 KCNA1

More info about this panel
Canada.

Episodic Ataxia Type 6, Sequencing SLC1A3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC1A3 gene.

More info about this panel
Spain.

Episodic Ataxia , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Episodic Ataxia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1

More info about this panel
Spain.

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