1. Genes and Genomic Entities
  2. RORA

RORA

RAR related orphan receptor A
OMIM: 600825, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red RORA in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.11

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • risk of HSCR
Green RORA in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.32
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060
    • intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745
    Amber RORA in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • INTELLECTUAL DISABILITY
    Green RORA in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • INTELLECTUAL DISABILITY
    Green RORA in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
    Green RORA in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
    Amber RORA in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060
    • intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745