DDG2P
Gene: CIAO1

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CIAO1-related neuromuscular disorder with intellectual disability are limited, biallelic_autosomal and loss of function (PMIDs: 38411040, 38950322). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03768.
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
CIAO1-related neuromuscular disorder with intellectual disability; MONDO:0975806

Publications

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 Red

Phenotypes

CIAO1-related neuromuscular disorder with intellectual disability
MONDO:0975806

OMIM

604333

Clinvar variants

Variants in CIAO1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CIAO1 was added gene: CIAO1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIAO1 were set to 38950322; 38411040 Phenotypes for gene: CIAO1 were set to CIAO1-related neuromuscular disorder with intellectual disability; MONDO:0975806

DDG2P Gene: CIAO1