Structural basal ganglia disorders
Gene: SLC20A2EnsemblGeneIds (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
-
- COVID-19 research
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Intracerebral calcification disorders
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Added New Source
Sarah Leigh (Genomics England Curator)SLC20A2 was added to Structural basal ganglia disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)SLC20A2 was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
Created
Sarah Leigh (Genomics England Curator)SLC20A2 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)SLC20A2 was added to Structural basal ganglia disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services