Adult onset neurodegenerative disorder
Gene: SLC30A10Comment on phenotypes: Previous 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;Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease;Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280;Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver DiseaseCreated: 29 Mar 2021, 12:43 p.m. | Last Modified: 29 Mar 2021, 12:43 p.m.
Panel Version: 2.165
Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved - onset in 1st or 2nd decade - redCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
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; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Parkinsonism associated with manganese accumulationCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames 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, 5:35 p.m.
Phenotypes for gene: SLC30A10 were changed from 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; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease to Hypermanganesemia with dystonia 1, OMIM:613280
Source Expert Review Amber was added to SLC30A10. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Wessex and West Midlands GLH was added to SLC30A10.
Publications for gene SLC30A10 were changed from 25778823; 22341972; 22934317; 22926781; 22341971 to 22926781; 22341972; 22934317; 30272946; 22341971; 25778823
Source Yorkshire and North East GLH was added to SLC30A10.
Source NHS GMS was added to SLC30A10.
Source London North GLH was added to SLC30A10.
Louise Daugherty: Comment on phenotypes: amended
Tag treatable tag was added to gene: SLC30A10.
Added 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; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease for gene: SLC30A10
gene: SLC30A10 was added gene: SLC30A10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A10 were set to 25778823; 22341972; 22934317; 22926781; 22341971 Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280