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Mendeliome

Gene: CDO1

Amber List (moderate evidence)

CDO1 (cysteine dioxygenase type 1)
EnsemblGeneIds (GRCh38): ENSG00000129596
EnsemblGeneIds (GRCh37): ENSG00000129596
OMIM: 603943, Gene2Phenotype
CDO1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

All had severe microcephaly and DD/ID.
Created: 5 Mar 2025, 5:12 a.m. | Last Modified: 5 Mar 2025, 5:12 a.m.
Panel Version: 1.2348

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic disease, MONDO:0002254, CDO1-related

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Three children with overlapping neurological features. Three missense de novo variants were identified and were clustered around exon 3 and exon 4.
The three missense variants identified p.(His147Arg, Ala131Val, Glu143Lys) were classified as VUS due to the insilicos and the lack of other reports and are all absent from gnomAD v4.1.
Sources: Literature
Created: 3 Mar 2025, 11:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurological Disorder MONDO:0100545

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Syndromic disease, MONDO:0002254, CDO1-related
OMIM
603943
Clinvar variants
Variants in CDO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdo1 has been classified as Amber List (Moderate Evidence).

5 Mar 2025, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDO1 were changed from Neurological Disorder MONDO:0100545 to Syndromic disease, MONDO:0002254, CDO1-related

5 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdo1 has been classified as Amber List (Moderate Evidence).

3 Mar 2025, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: CDO1 was added gene: CDO1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CDO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDO1 were set to 39949058 Phenotypes for gene: CDO1 were set to Neurological Disorder MONDO:0100545 Review for gene: CDO1 was set to AMBER