Genopathy
Gene-Disorder Association · Article
Gene
SLC20A2
Solute Carrier Family 20 Member 2
Disorder
Basal Ganglia Calcification
First reported 1999
Supporting publications 16
Key publication · gene–disorder Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).American journal of human genetics · 1999
Key publication · disorder Extrapyramidal syndrome akin to Hallervorden-Spatz and Fahr disease; a clinical pathological report.Transactions of the American Neurological Association · 1954
Manually curated
Association Review

In brief

The association between SLC20A2 (Solute Carrier Family 20 Member 2) and Basal Ganglia Calcification is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 138
Symptoms 7
Compounds 0
Trials 0
Publications 16
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
SLC20A2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Basal Ganglia Calcification

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
ClinVar and variant evidence

Genetic basis

138 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
06
Literature

Reading

16 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
07
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access