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 8.23
Latest signed off version: v8.0 (30 Apr 2025)

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 7.36
Latest signed off version: v7.0 (30 Apr 2025)

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