Adult onset dystonia, chorea or related movement disorder
Gene: RNASEH2B
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:50 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181; Dystonia to Aicardi-Goutieres syndrome 2, OMIM:610181; Dystonia (onset in infancy)
Mode of inheritance for gene: RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B Publications for gene RNASEH2B were changed from to 17846997; 25604658; 16845400
Source NHS GMS was added to RNASEH2B.
Source South West GLH was added to RNASEH2B.
gene: RNASEH2B was added gene: RNASEH2B was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: RNASEH2B was set to Phenotypes for gene: RNASEH2B were set to Dystonia