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
Athetosis 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
  • Broad-based gait
  • Abnormality of neuronal migration
  • Choreoathetosis
  • Progressive neurologic deterioration

And 68 more phenotypes, you can get all of them using our tools for rare diseases.

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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

SOURCES: ORPHANET OMIM


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

SLC20A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC20A2 gene.

More info about this panel

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

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

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

Basal ganglia calcification type 1 Panel

Canada.

By LifeLabs Genetics

This panel specifically test the SLC20A2 gene.

More info about this panel

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

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

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


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