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Intellectual disability

Gene: CIAO1

Green List (high evidence)
CIAO1 (cytosolic iron-sulfur assembly component 1)
EnsemblGeneIds (GRCh38): ENSG00000144021
EnsemblGeneIds (GRCh37): ENSG00000144021
OMIM: 604333, Gene2Phenotype
CIAO1 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97
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

Created: 28 Aug 2024, 3:36 p.m.
Last Modified: 28 Aug 2024, 3:36 p.m.
Copied from panel: Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

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: Literature
Created: 24 Aug 2024, 1:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy

Publications

Created: 24 Aug 2024, 1:12 p.m.

Copied from panel: Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • 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

11 Dec 2025, Gel status: 3

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

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: CIAO1. Tag Q3_24_NHS_review was removed from gene: CIAO1.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to CIAO1. Source Expert Review Green was added to CIAO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Aug 2024, Gel status: 2

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 Intellectual disability. Sources: Literature,Expert Review Amber 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