Adult onset dystonia, chorea or related movement disorder
Gene: NR4A2
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, 4:42 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.
Added phenotypes Parkinson Disease, Dominant/Recessive (susceptibility to) for gene: NR4A2 Publications for gene NR4A2 were changed from 15184637; 12496759; 15276233; 12827450; 27012974; 24126627; 15390059; 25543265 to 12827450; 25543265; 15390059; 24126627; 27012974; 15184637; 12496759; 15276233
Source NHS GMS was added to NR4A2.
Source South West GLH was added to NR4A2.
gene: NR4A2 was added gene: NR4A2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NR4A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NR4A2 were set to 15184637; 12496759; 15276233; 12827450; 27012974; 24126627; 15390059; 25543265 Phenotypes for gene: NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to)