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Fetal anomalies

Gene: ODC1

No list

ODC1 (ornithine decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000115758
EnsemblGeneIds (GRCh37): ENSG00000115758
OMIM: 165640, Gene2Phenotype
ODC1 is in 4 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Polyhydraminos are a common prenatal finding in individuals with ODC1 variants. Malformations of cortical development and intracranial calcification have also been reported.
Sources: Literature
Created: 11 May 2022, 12:37 a.m.

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

Phenotypes
Bachmann-Bupp syndrome (MIM#619075)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Bachmann-Bupp syndrome (MIM#619075)
OMIM
165640
Clinvar variants
Variants in ODC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2022, Gel status: 0

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

Lucy Spencer (Victorian Clinical Genetics Services)

gene: ODC1 was added gene: ODC1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ODC1 were set to 30475435; 30239107 Phenotypes for gene: ODC1 were set to Bachmann-Bupp syndrome (MIM#619075) Review for gene: ODC1 was set to GREEN