Parkinson Disease and Complex Parkinsonism
Gene: NR4A2The gene product, Nurr1, was shown to be critical for dopaminergic cell development and survival, hence the gene has been sequenced in several candidate gene studies in PD. 12496759 identified two heterozygous mutations in 10/107 familial PD patients. Subsequent studies failed to identify pathogenic variants in PD (12827450, 15184637, 15276233). 15390059 identified a variant previously reported in Asian PD patients, in controls. So far, conflicting evidence regarding the role of NR4A2 In PD.Created: 14 Dec 2016, 5:27 p.m.
Publications
Comment on list classification: Targeting Nurr-1 (NR4A2) as a therapy for PD targeted therapy is discuseed in PMID: 27012974; 25543265; 24126627. May be a susceptibility gene for PD - PMID: 22827504,19429166. Though variants reported in OMIM have been reclassified due to other studies not replicating an association, with more recent studies also finding no association (PMID: 19224617). Studies that do not find variants associated with Parkinson's disease in this gene - PMID:15197702, 15184637, 15390059, 15966003, 16977628 studies identifying potential susceptibility variants: 16532445.Created: 3 Nov 2016, 2:04 p.m.
19th Dec 2016: panel revised according to expert review and further curation.
Publications for NR4A2 were set to 12496759; 12827450; 15184637; 15276233; 15390059;27012974; 25543265; 24126627
Publications for NR4A2 were set to 12496759; 12827450; 15184637; 15276233; 15390059
This gene has been classified as Red List (Low Evidence).
Phenotypes for NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to)
Phenotypes for NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to).
This gene has been classified as Red List (Low Evidence).
NR4A2 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
NR4A2 was created by ellenmcdonagh