Hereditary neuropathy
Gene: RCC1EnsemblGeneIds (GRCh38): ENSG00000180198
EnsemblGeneIds (GRCh37): ENSG00000180198
OMIM: 179710, Gene2Phenotype
RCC1 is in 3 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Rating Green on this 100K panel as there is a sufficient number of unrelated cases with the same phenotype and functional data to support this gene-disease association.
At least 12 unrelated families reported (PMID: 40683276) with biallelic variants in this gene associated with severe, acute-onset axonal neuropathy following infection. Eight different missense variants were identified. In vitro studies indicate that variants reduced the thermal stability of the RCC1 protein and some variants decreased GDP-to-GTP exchange activity. Patient fibroblasts under stress, revealed defects in Ran nuclear localisation and impaired nucleocytoplasmic transport. A Drosophila model demonstrated that altered Rcc1 function leads to fatal intolerance to oxidative stress.Created: 1 Aug 2025, 2:57 p.m. | Last Modified: 1 Aug 2025, 2:57 p.m.
Panel Version: 1.498
Bill Newman (Manchester Centre for Genomic Medicine)
We have just described 12 families withbiallelic hylomorphic variants in this gene associated with acute onset axonal neuropathy mimicking Guillain Barre syndrome (ie post infective onset)
Sources: Expert listCreated: 28 Jul 2025, 10:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
axonal neuropathy; encephalopathy; infection-induced neuropathy
Publications
- PMID: 40683276
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Severe, acute-onset axonal neuropathy following infection
- OMIM
- 179710
- Clinvar variants
- Variants in RCC1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RCC1 were changed from axonal neuropathy; encephalopathy; infection-induced neuropathy to Severe, acute-onset axonal neuropathy following infection
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: RCC1 were set to PMID: 40683276
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: rcc1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Bill Newman (Manchester Centre for Genomic Medicine)gene: RCC1 was added gene: RCC1 was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RCC1 were set to PMID: 40683276 Phenotypes for gene: RCC1 were set to axonal neuropathy; encephalopathy; infection-induced neuropathy Penetrance for gene: RCC1 were set to Complete Review for gene: RCC1 was set to GREEN