Structural basal ganglia disorders
Gene: SLC20A2
SLC20A2 (solute carrier family 20 member 2)
EnsemblGeneIds (GRCh38): ENSG00000168575
EnsemblGeneIds (GRCh37): ENSG00000168575
OMIM: 158378, Gene2Phenotype
SLC20A2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000168575
EnsemblGeneIds (GRCh37): ENSG00000168575
OMIM: 158378, Gene2Phenotype
SLC20A2 is in 10 panels
1 review
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 1 213600
- OMIM
- 158378
- Clinvar variants
- Variants in SLC20A2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Intracerebral calcification disorders
- Intellectual disability
- COVID-19 research
- Adult onset neurodegenerative disorder
History Filter Activity
16 Mar 2017, Gel status: 3
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
7 Sep 2016, Gel status: 3
Added New Source
Sarah Leigh (Genomics England Curator)SLC20A2 was added to Structural basal ganglia disorderspanel. Source: Emory Genetics Laboratory
7 Sep 2016, Gel status: 2
Added New Source
Sarah Leigh (Genomics England Curator)SLC20A2 was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
7 Sep 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SLC20A2 was created by sleigh
7 Sep 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)SLC20A2 was added to Structural basal ganglia disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services