NR4A2

nuclear receptor subfamily 4 group A member 2
OMIM: 601828, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red NR4A2 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.120

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Parkinson Disease, Dominant/Recessive (susceptibility to)
Red NR4A2 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Amber NR4A2 in Adult onset neurodegenerative disorder


Version 4.46
Latest signed off version: v4.34 (31 Jul 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911
Green NR4A2 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NR4A2-related developmental disorder (monoallelic)
    Green NR4A2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911
    Green NR4A2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911
    Tags
    • Autism Spectrum Disorder
    Red NR4A2 in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Parkinson Disease, Dominant/Recessive (susceptibility to)