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Microcephaly

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three children with overlapping features including severe microcephaly and DD/ID. 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) are all absent from gnomAD v4.1.
Sources: Literature
Created: 5 Mar 2025, 5:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic disease, MONDO:0002254, CDO1-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
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

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: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDO1 was added gene: CDO1 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: CDO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDO1 were set to 39949058 Phenotypes for gene: CDO1 were set to Syndromic disease, MONDO:0002254, CDO1-related Review for gene: CDO1 was set to AMBER