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Intellectual disability syndromic and non-syndromic

Gene: ODC1

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Fifth individual reported in PMID 30239107: de novo nonsense variant identified, molecular modeling suggested that due to lack of a C terminus in the mutant protein, antizyme binding does not induce ODC degradation, leading to accumulation of active protein.
Created: 30 Oct 2020, 9:22 p.m. | Last Modified: 30 Oct 2020, 9:22 p.m.
Panel Version: 0.3126
Four individuals with de novo GoF variants in this gene reported.
Sources: Literature
Created: 4 Jan 2020, 6:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075
OMIM
165640
Clinvar variants
Variants in ODC1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

30 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ODC1 were set to 30475435

30 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ODC1 were changed from Intellectual disability; macrocephaly; dysmorphism to Neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075

4 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: odc1 has been classified as Green List (High Evidence).

4 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: odc1 has been classified as Green List (High Evidence).

4 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ODC1 was added gene: ODC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ODC1 were set to 30475435 Phenotypes for gene: ODC1 were set to Intellectual disability; macrocephaly; dysmorphism Mode of pathogenicity for gene: ODC1 was set to Other Review for gene: ODC1 was set to GREEN