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.
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
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
Search interest in SLC12A5
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 United States.
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 United States.
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 Germany.
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 Germany.
Bartter syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC12A5 gene.
More info about this panel Germany.
Single gene testing SLC12A5 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SLC12A5 gene.
More info about this panel Germany.
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 Estonia.
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 Spain.
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 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.
SLC12A5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC12A5 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Spain.
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