DDG2P
Gene: RCC1

RCC1 (regulator of chromosome condensation 1)
EnsemblGeneIds (GRCh38): ENSG00000180198
EnsemblGeneIds (GRCh37): ENSG00000180198
OMIM: 179710, Gene2Phenotype
RCC1 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy are moderate, biallelic_autosomal and loss of function (PMID:40683276). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03893.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy

Publications

40683276

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy

OMIM

179710

Clinvar variants

Variants in RCC1

Penetrance

None

Publications

40683276

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RCC1 was added gene: RCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RCC1 were set to 40683276 Phenotypes for gene: RCC1 were set to RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy

DDG2P Gene: RCC1