Early onset dystonia
Gene: SLC30A10
Comment from the Parkinson panel: 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: 15 Dec 2016, 11:10 a.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: >3 unrelated cases reported on OMIM for different variants in patients from different ethnicities.Created: 25 Aug 2016, 10 a.m.
This gene is not mentioned in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 8:35 a.m.
Comment on list classification: Potentially treatable metabolic defect that can present with dystoniaCreated: 27 May 2016, 9:42 a.m.
Phenotypes for gene: SLC30A10 were changed from Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 to Hypermanganesemia with dystonia 1, OMIM:613280; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Publications for SLC30A10 were set to 25778823;22341971; 22341972; 22926781; 22934317
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SLC30A10 were set to PMID: 25778823
Model of inheritance for gene SLC30A10 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SLC30A10 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SLC30A10 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SLC30A10 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC30A10 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
SLC30A10 was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services