1. Genes and Genomic Entities
  2. RFC1

RFC1

replication factor C subunit 1
OMIM: 102579, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red RFC1 in Hereditary ataxia with onset in adulthood


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575
  • cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, MONDO:0044720
Tags
  • STR
Red RFC1 in Hereditary neuropathy or pain disorder


Version 4.8
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575
  • cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, MONDO:0044720
Tags
  • STR