SLC12A5 gene related symptoms and diseases

All the information presented here about the SLC12A5 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 SLC12A5 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Muscle fibrillation Common - Between 50% and 80% cases
Status epilepticus Common - Between 50% and 80% cases
Epileptic encephalopathy Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with SLC12A5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Focal-onset seizure
  • Generalized myoclonic seizures
  • Developmental regression
  • Apnea
  • Encephalopathy
  • Global developmental delay
  • Generalized hypotonia
  • Not very common - Between 30% and 50% cases

  • Generalized tonic-clonic seizures

And 36 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SLC12A5 gene

Here you will find a list of rare diseases related to the SLC12A5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY


Alternate names

MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Is also known as mmpei, malignant migrating partial epilepsy of infancy, mmpsi, migrating partial epilepsy of infancy, mpsi, mpei, migrating partial seizures of infancy

Description

Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Most common symptoms of MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY

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


More info about MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY

SOURCES: OMIM ORPHANET

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34; EIEE34


Description

Early infantile epileptic encephalopathy-34 is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally (summary by Stodberg et al., 2015).For a discussion of genetic heterogeneity of EIEE, see {308350}.

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34; EIEE34

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cerebral atrophy


More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34; EIEE34

SOURCES: OMIM

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14


Most common symptoms of EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14

  • Seizures
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures
  • Febrile seizures
  • Absence seizures


More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14

SOURCES: OMIM


Potential gene panels for SLC12A5 gene

CHOP Epilepsy Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC6A8 SPTAN1

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

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

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Bartter Syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Bartter Syndrome panel that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5

More info about this panel

Bartter syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC12A5 gene.

More info about this panel

Single gene testing SLC12A5 Panel

Germany.

By CeGaT GmbH

This panel specifically test the SLC12A5 gene.

More info about this panel

Epilepsy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8

More info about this panel

BARTTER SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BARTTER SYNDROME that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5

More info about this panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12

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

SLC12A5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC12A5 gene.

More info about this panel

Epileptic Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

BARTTER SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BARTTER SYNDROME NGS PANEL that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5

More info about this panel


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