Genomics England
GMS Panels
Panels
Genes and Entities

CIAO1

cytosolic iron-sulfur assembly component 1
OMIM: 604333
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CIAO1 associated neuromuscular disorder