RFC1

replication factor C subunit 1
OMIM: 102579, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red RFC1 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 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 Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	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
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