Parkinson Disease and Complex Parkinsonism
Gene: SLC30A10
Biallelic mutations cause hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia). PMID: 22341971 (2 consang families with two consanguineous families with neurologic disorders including juvenile-onset dystonia, adult-onset parkinsonism, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis), 22341972 (8 families with HMNDYT1), 22926781 (one pt, and treatment: intravenous disodium calcium edetate (CaNa2-EDTA ethylenediaminetetraacetic acid), 1 g twice-daily (BD) over 5 days led to significantly increased 24-hour urinary manganese (12,852 nmol after 5 days) and reduced blood manganese levels. THIS IS ONE OF THE FEW DYSTONA-PARKINSONISM that is treatable), 22934317 (this is a gene review for this disorder). Keep this gene in both this gene to both the dystonia panel and pd.Created: 14 Dec 2016, 5:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia
Publications
Comment on list classification: Confirmed with Arianna that this should be green.Created: 8 Dec 2016, 3:27 p.m.
Comment on list classification: Is a green gene on the early onset dystonia panel, version 1.0. The phenotype Hypermanganesemia with dystonia 1 includes Parkinsonism, though I am unsure whether this should be included on this panel.Created: 3 Nov 2016, 4:30 p.m.
Phenotypes for gene: SLC30A10 were changed from Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia to Hypermanganesemia with dystonia 1, OMIM:613280; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease;hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia
Publications for SLC30A10 were set to 22341971; 22341972; 22926781; 22934317
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SLC30A10 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
SLC30A10 was created by ellenmcdonagh