RANBP2

RAN binding protein 2
OMIM: 601181, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green RANBP2 in COVID-19 research


Level 2: Viral research
Version 1.147

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2028
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • London North GLH
  • NHS GMS
  • North West GLH
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Fever induces acute encephalopathy
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
Green RANBP2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.102
Latest signed off version: v9.91 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
  • Fever induces acute encephalopathy
Amber RANBP2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Acute necrotizing encephalopathy (Other metabolic disorders)
Tags
  • treatable
Amber RANBP2 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.30
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    Phenotypes
    • Acute necrotizing encephalopathy (Other metabolic disorders)
    Red RANBP2 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
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO 285648
    Amber RANBP2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.72
    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, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • {Encephalopathy, acute, infection-induced, 3, susceptibility to}, OMIM:608033
    Red RANBP2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.23
    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, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033
    Red RANBP2 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH