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  3. SLC20A2
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Paroxysmal Dyskinesia

Gene: SLC20A2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low 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. Paroxysmal dyskinesia reported in one family only.
Created: 10 Sep 2020, 4:21 a.m. | Last Modified: 10 Sep 2020, 4:21 a.m.
Panel Version: 0.50

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 10 Sep 2020, 4:21 a.m.
Last Modified: 10 Sep 2020, 4:21 a.m.
Panel version: 0.50

Eunice Chan (Royal Children's Hospital)

Case report of 1 family
Sources: Expert list
Created: 9 Sep 2020, 3:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Paroxysmal kinesigenic dyskinesia; Basal ganglia calcification

Publications

Created: 9 Sep 2020, 3:30 a.m.

Panel version: 0.42

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Basal ganglia calcification, idiopathic, 1, MIM# 213600
  • Paroxysmal kinesigenic dyskinesia
OMIM
158378
Clinvar variants
Variants in SLC20A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc20a2 has been classified as Red List (Low Evidence).

10 Sep 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC20A2 were changed from Paroxysmal kinesigenic dyskinesia; Basal ganglia calcification to Basal ganglia calcification, idiopathic, 1, MIM# 213600; Paroxysmal kinesigenic dyskinesia

10 Sep 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC20A2 were set to PMID 24411498

10 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc20a2 has been classified as Red List (Low Evidence).

9 Sep 2020, Gel status: 0

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

Eunice Chan (Royal Children's Hospital)

gene: SLC20A2 was added gene: SLC20A2 was added to Paroxysmal Dyskinesia. Sources: Expert list Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC20A2 were set to PMID 24411498 Phenotypes for gene: SLC20A2 were set to Paroxysmal kinesigenic dyskinesia; Basal ganglia calcification