RORA

RAR related orphan receptor A
OMIM: 600825, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red RORA in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • risk of HSCR

Amber RORA in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • 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
    Tags
    • Q2_21_rating

    Amber RORA in Fetal anomalies


    Version 1.905
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Amber RORA in DDG2P


    Version 2.78
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • INTELLECTUAL DISABILITY

    Green RORA in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.572
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    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

    Green RORA in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060