Congenital muscular dystrophy
Gene: CIAO1EnsemblGeneIds (GRCh38): ENSG00000144021
EnsemblGeneIds (GRCh37): ENSG00000144021
OMIM: 604333, Gene2Phenotype
CIAO1 is in 7 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 10 Dec 2025, 3 p.m. | Last Modified: 10 Dec 2025, 3 p.m.
Panel Version: 6.3
Sarah Leigh (Genomics England Curator)
CIAO1 variants have not previously been associated with a phenotype (OMIM, Gen2Phen, Mondo or Orphanet). Maio et al (PMID: 38950322) report five biallelic CIAO1 variants in four unrelated individuals with a neuromuscular disorder with compromised nucleocytoplasmic Fe-S enzymes. The authors also report functional studies which reveal that the "CIAO1 variants failed to recruit Fe-S recipient proteins, resulting in compromised activities of DNA helicases, polymerases, and repair enzymes that rely on the CIA complex to acquire their Fe-S cofactors". In addition, they revealed that all patient-derived cellular abnormalities could be reversed using Lentivirus-mediated restoration of CIAO1 expression.Created: 28 Aug 2024, 3:36 p.m. | Last Modified: 28 Aug 2024, 3:36 p.m.
Panel Version: 4.37
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Dmitrijs Rots (Children's Clinical University Hospital)
Study reported at least 4 families with: "patients with biallelic loss of function in CIAO1 developed proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. In addition, they presented with CNS symptoms including learning difficulties and neurobehavioral comorbidities, along with iron deposition in deep brain nuclei, mild normocytic to macrocytic anemia, and gastrointestinal symptoms.".
Sources: LiteratureCreated: 24 Aug 2024, 1:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
myopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960
- OMIM
- 604333
- Clinvar variants
- Variants in CIAO1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CIAO1 were changed from CIAO1 associated neuromuscular disorder to Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: CIAO1. Tag Q3_24_NHS_review was removed from gene: CIAO1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to CIAO1. Source NHS GMS was added to CIAO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: CIAO1 was added gene: CIAO1 was added to Congenital muscular dystrophy. Sources: Expert Review Amber,Literature Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1. Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIAO1 were set to 38950322 Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder