Neurodegenerative disorders - adult onsetGene: NR4A2
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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
Small number of point mutations but meta-analysis could not show any association of polymorphisms within the gene to Parkinson disease
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
Parkinson Disease, Dominant/Recessive (susceptibility to)
Source Expert Review Amber was added to NR4A2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Publications for gene NR4A2 were changed from 25543265; 12827450; 12496759; 24126627; 27012974; 15184637; 15390059; 15276233 to 24126627; 15390059; 15184637; 25543265; 27012974; 19429166; 15276233; 12827450; 28385514; 16532445; 12496759
Source NHS GMS was added to NR4A2.
Source Yorkshire and North East GLH was added to NR4A2.
Rebecca Foulger: Gene awaiting curator evaluati
gene: NR4A2 was added gene: NR4A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: NR4A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NR4A2 were set to 25543265; 12827450; 12496759; 24126627; 27012974; 15184637; 15390059; 15276233 Phenotypes for gene: NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to)