1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. NR4A2
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: NR4A2

Red List (low evidence)
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

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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 RED
Created: 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.
Created: 23 Apr 2019, 12:18 p.m.

Panel version: 0.88

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson Disease, Dominant/Recessive (susceptibility to)

Publications

Created: 23 Apr 2019, 12:14 p.m.

Panel version: 0.49

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Parkinson Disease, Dominant/Recessive (susceptibility to)
OMIM
601828
Clinvar variants
Variants in NR4A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NR4A2.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to NR4A2.

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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)