Genomics England
GMS Panels
Panels
Genes and Entities

RCC1

regulator of chromosome condensation 1
OMIM: 179710
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe, acute-onset axonal neuropathy following infection