SLC20A2 gene related symptoms and diseases
All the information presented here about the SLC20A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC20A2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Clumsiness | Very Common - Between 80% and 100% cases |
| Mask-like facies | Very Common - Between 80% and 100% cases |
| Emotional lability | Very Common - Between 80% and 100% cases |
| Oral-pharyngeal dysphagia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC20A2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dysdiadochokinesis
- Slurred speech
- Schizophrenia
- Muscle stiffness
- Choreoathetosis
- Abnormality of neuronal migration
- Broad-based gait
- Progressive neurologic deterioration
And 68 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC20A2 gene
Here you will find a list of rare diseases related to the SLC20A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BILATERAL STRIOPALLIDODENTATE CALCINOSIS
Alternate names
BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis, primary familial brain calcification, ferrocalcinosis, cerebrovascular, pfbc, bspdc, striopallidodentate calcinosis, bilateral, cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset, basal ganglia calcification, id
Description
Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
Most common symptoms of BILATERAL STRIOPALLIDODENTATE CALCINOSIS
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Ataxia
More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS
Search interest in SLC20A2
Potential gene panels for SLC20A2 gene
Dystonia Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Movement Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
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.
SLC20A2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC20A2 gene.
More info about this panel Spain.
Basal ganglia calcification, idiopathic 1 (sequence anaysis of SLC20A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC20A2 gene.
More info about this panel Portugal.
Idiopathic basal ganglia calcification 1 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC20A2 gene.
More info about this panel Germany.
Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 XPR1 PDGFB PDGFRB
More info about this panel United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panel United States.
Basal ganglia calcification, idiopathic, 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC20A2 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.
Basal ganglia calcification Panel Panel
Germany.
By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2
More info about this panel Germany.
Fahr’s disease Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Fahr’s disease that also includes the following genes: SLC20A2 PDGFB PDGFRB
More info about this panel Spain.
Dystonia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
SLC20A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC20A2 gene.
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.
Parkinson Disease Panel Panel
Finland.
By Blueprint Genetics Parkinson Disease Panel that also includes the following genes: SLC20A2 SLC6A3 SNCA SPR SYNJ1 TH VPS35 FBXO7 PINK1 DNAJC6
More info about this panel Finland.
BILATERAL STRIOPALLIDODENTATE CALCINOSIS (BSPDC) Panel
Spain.
By Laboratorio de Genetica Clinica SL BILATERAL STRIOPALLIDODENTATE CALCINOSIS (BSPDC) that also includes the following genes: SLC20A2 PDGFB PDGFRB
More info about this panel Spain.
Basal ganglia calcification type 1 Panel
Canada.
By LifeLabs Genetics
This panel specifically test the SLC20A2 gene.
More info about this panel Canada.
Fahr Disease , Panel massive Sequencing (NGS) (SLC20A2, PDGFRB, PDGFB) Genes Panel
Spain.
By Reference Laboratory Genetics Fahr Disease , Panel massive Sequencing (NGS) (SLC20A2, PDGFRB, PDGFB) Genes that also includes the following genes: SLC20A2 PDGFB PDGFRB
More info about this panel Spain.
Primary Familial Brain Calcification: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Familial Brain Calcification: gene sequencing panel that also includes the following genes: SLC20A2 XPR1 PDGFB PDGFRB
More info about this panel Canada.
Primary Familial Brain Calcification: gene deletion/duplication panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Familial Brain Calcification: gene deletion/duplication panel that also includes the following genes: SLC20A2 PDGFB
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KCNH1 ABCD4 CDH15 TBCK PSTPIP1