Early-onset Parkinson disease
Gene: SLC20A2

SLC20A2 (solute carrier family 20 member 2)
EnsemblGeneIds (GRCh38): ENSG00000168575
EnsemblGeneIds (GRCh37): ENSG00000168575
OMIM: 158378, Gene2Phenotype
SLC20A2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 families reported. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache.
Created: 10 Sep 2020, 4:32 a.m. | Last Modified: 10 Sep 2020, 4:32 a.m.

Panel Version: 0.54

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 1, MIM# 213600

Publications

Created: 10 Sep 2020, 4:32 a.m.
Last Modified: 10 Sep 2020, 4:32 a.m.
Panel version: 0.54

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Basal ganglia calcification, idiopathic, 1, MIM# 213600

OMIM

158378

Clinvar variants

Variants in SLC20A2

Penetrance

None

Publications

Panels with this gene