Adult onset dystonia, chorea or related movement disorder
Gene: SLC30A10EnsemblGeneIds (GRCh38): ENSG00000196660
EnsemblGeneIds (GRCh37): ENSG00000196660
OMIM: 611146, Gene2Phenotype
SLC30A10 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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Hypermanganesemia with dystonia 1, OMIM:613280
- OMIM
- 611146
- Clinvar variants
- Variants in SLC30A10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Neonatal cholestasis
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Hereditary Erythrocytosis
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC30A10 were changed from Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic 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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC30A10.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to SLC30A10.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SLC30A10 was added gene: SLC30A10 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A10 were set to 22341971; 22341972; 22926781; 22934317; 25778823 Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic 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