This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: SLC30A10
SLC30A10 (solute carrier family 30 member 10)
EnsemblGeneIds (GRCh38): ENSG00000196660
EnsemblGeneIds (GRCh37): ENSG00000196660
OMIM: 611146, Gene2Phenotype
SLC30A10 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000196660
EnsemblGeneIds (GRCh37): ENSG00000196660
OMIM: 611146, Gene2Phenotype
SLC30A10 is in 10 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease
- Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
- OMIM
- 611146
- Clinvar variants
- Variants in SLC30A10
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Neonatal cholestasis
- Hereditary Erythrocytosis
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
24 Jul 2015, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC30A10 was changed to BIALLELIC, autosomal or pseudoautosomal
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SLC30A10 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Illumina TruGenome Clinical Sequencing Services