Parkinson Disease and Complex Parkinsonism
Gene: NR4A2

NR4A2 (nuclear receptor subfamily 4 group A member 2)
EnsemblGeneIds (GRCh38): ENSG00000153234
EnsemblGeneIds (GRCh37): ENSG00000153234
OMIM: 601828, Gene2Phenotype
NR4A2 is in 6 panels

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

The 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

Created: 14 Dec 2016, 5:27 p.m.

Panel version: 0.161

Ellen McDonagh (Genomics England Curator)

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.

Created: 3 Nov 2016, 1:09 p.m.

Panel version: 0.95

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Parkinson Disease, Dominant/Recessive (susceptibility to)

OMIM

601828

Clinvar variants

Variants in NR4A2

Penetrance

Complete

Publications

Panels with this gene