1. Genes and Genomic Entities
  2. RCC1

RCC1

regulator of chromosome condensation 1
OMIM: 179710, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green RCC1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy
    Green RCC1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Severe, acute-onset axonal neuropathy following infection
    Amber RCC1 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Severe, acute-onset axonal neuropathy following infection
    Tags
    • Q3_25_promote_green
    • Q3_25_NHS_review