Parkinson Disease and Complex Parkinsonism
Gene: SLC20A2

SLC20A2 (solute carrier family 20 member 2)
EnsemblGeneIds (GRCh38): ENSG00000168575
EnsemblGeneIds (GRCh37): ENSG00000168575
OMIM: 158378, Gene2Phenotype
SLC20A2 is in 10 panels

1 review

Zornitza Stark (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.
Sources: Expert list
Created: 23 Sep 2020, midnight

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Sep 2020, midnight

Panel version: 1.68

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

Basal ganglia calcification, idiopathic, 1, MIM# 213600

OMIM

158378

Clinvar variants

Variants in SLC20A2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SLC20A2 was added gene: SLC20A2 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC20A2 were set to 22327515; 23334463 Phenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1, MIM# 213600 Review for gene: SLC20A2 was set to GREEN gene: SLC20A2 was marked as current diagnostic

Parkinson Disease and Complex Parkinsonism Gene: SLC20A2