1. Genes and Genomic Entities
  2. RBCK1

RBCK1

RANBP2-type and C3HC4-type zinc finger containing 1
OMIM: 610924, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green RBCK1 in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
  • Bacterial infections, autoinflammation, amylopectinosis
  • Combined immunodeficiencies with associated or syndromic features
Green RBCK1 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
    Green RBCK1 in Glycogen storage disease


    Version 2.4
    Latest signed off version: v2.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895
    • polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389
    Green RBCK1 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    • North West GLH
    • London North GLH
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • ESID Registry 20171117
    • GRID V2.0
    Phenotypes
    • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
    • Bacterial infections, autoinflammation, amylopectinosis
    • Combined immunodeficiencies with associated or syndromic features
    Red RBCK1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.3
    Latest signed off version: v6.0 (1 May 2024)

    		review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
    Red RBCK1 in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.38
    Latest signed off version: v4.37 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
    Green RBCK1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
    Green RBCK1 in Likely inborn error of metabolism - targeted testing not possible


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
    Red RBCK1 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green RBCK1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polyglucosan body myopathy 1 with or without immunodeficiency, 615895
    Green RBCK1 in Autoinflammatory disorders

    Level 3: Primary immunodeficiency disorders
    Level 2: Haematological disorders
    Version 2.1
    Latest signed off version: v2.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
    Amber RBCK1 in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895