1. Genes and Genomic Entities
  2. RFC1_AAGGG

RFC1_AAGGG

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red RFC1_AAGGG STR in Hereditary ataxia with onset in adulthood


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM: 614575
    Tags
    • STR
    • NGS Not Validated
    Red RFC1_AAGGG STR in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.4
    Latest signed off version: v8.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM: 614575
    Tags
    • STR
    • NGS Not Validated