Adult onset dystonia, chorea or related movement disorder
Gene: SLC20A2EnsemblGeneIds (GRCh38): ENSG00000168575
EnsemblGeneIds (GRCh37): ENSG00000168575
OMIM: 158378, Gene2Phenotype
SLC20A2 is in 10 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 1, OMIM:213600
- OMIM
- 158378
- Clinvar variants
- Variants in SLC20A2
- Penetrance
- None
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC20A2 were changed from Basal ganglia calcification, idiopathic, 1 213600 to Basal ganglia calcification, idiopathic, 1, OMIM:213600
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC20A2.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to SLC20A2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SLC20A2 was added gene: SLC20A2 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1 213600