Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Progressive neurological condition, ID is not part of the phenotype.
Created: 10 Dec 2019, 10:25 p.m. | Last Modified: 10 Dec 2019, 10:25 p.m.
Panel Version: 0.1216

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Basal ganglia calcification, idiopathic, 1, MIM#213600
OMIM
158378
Clinvar variants
Variants in SLC20A2
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2019, 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 Dec 2019, Gel status: 1

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 Dec 2019, Gel status: 1

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

10 Dec 2019, 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).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC20A2 was set to Unknown