Adult onset neurodegenerative disorder
Gene: SLC20A2
Primary pehnotype is dystonia.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal ganglia calcification, idiopathic, 1, 158378
Publications
Variants in this GENE are reported as part of current diagnostic practice
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: SLC20A2 were changed from Dystonia; Basal ganglia calcification, idiopathic, 1, 158378 to Dystonia; Basal ganglia calcification, idiopathic, 1, OMIM:158378
Phenotypes for gene: SLC20A2 were changed from Dystonia to Dystonia; Basal ganglia calcification, idiopathic, 1, 158378
Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene SLC20A2 were changed from to 24065723; 24135862
Source Yorkshire and North East GLH was added to SLC20A2.
Gene: slc20a2 has been classified as Green List (High Evidence).
Source NHS GMS was added to SLC20A2.
Source London North GLH was added to SLC20A2.
Rebecca Foulger: Gene awaiting curator evaluati
gene: SLC20A2 was added gene: SLC20A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SLC20A2 was set to Unknown Phenotypes for gene: SLC20A2 were set to Dystonia