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Mendeliome

Gene: SLC20A2

Green List (high evidence)

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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

LOF: PTV and missense variants result in loss of function/haploinsufficiency. Phosphate transport was shown to be severely impaired leading to accumulation of phosphate in the brain and decreased uptake activity

Dominant-negative: Dominant-negative effects possible for some variants

?hereditary multiple exostoses - single family reported (PMID: 32705272)
Created: 15 Oct 2020, 5:06 a.m. | Last Modified: 15 Oct 2020, 5:06 a.m.
Panel Version: 0.4917

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

Phenotypes
Basal ganglia calcification, idiopathic, 1213600; ?hereditary multiple exostoses

Publications

Mode of pathogenicity
Other

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, 4:26 a.m. | Last Modified: 10 Sep 2020, 4:26 a.m.
Panel Version: 0.4295

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Basal ganglia calcification, idiopathic, 1, MIM# 213600
  • ?hereditary multiple exostoses
OMIM
158378
Clinvar variants
Variants in SLC20A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC20A2 were changed from Basal ganglia calcification, idiopathic, 1, MIM# 213600 to Basal ganglia calcification, idiopathic, 1, MIM# 213600; ?hereditary multiple exostoses

15 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC20A2 were set to 22327515; 23334463

10 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc20a2 has been classified as Green List (High Evidence).

10 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC20A2 were set to

10 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC20A2 was added gene: SLC20A2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC20A2 was set to Unknown