1. Panels
  2. Fetal anomalies
  3. OXR1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: OXR1

Amber List (moderate evidence)
OXR1 (oxidation resistance 1)
EnsemblGeneIds (GRCh38): ENSG00000164830
EnsemblGeneIds (GRCh37): ENSG00000164830
OMIM: 605609, Gene2Phenotype
OXR1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Unclear if cerebellar atrophy or hypoplasia.
Created: 3 Mar 2022, 6:05 a.m. | Last Modified: 3 Mar 2022, 6:05 a.m.
Panel Version: 0.4731

Phenotypes
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000

Created: 3 Mar 2022, 6:05 a.m.
Last Modified: 3 Mar 2022, 6:05 a.m.
Panel version: 0.4731

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Early-onset condition associated with cerebellar atrophy and severe global developmental delay. Limited antenatal information provided but affected individuals were much older at the time of formal diagnosis PMID: 31785787, antenatal detection may be possible.

---
5 individuals from 3 unrelated families reported with bi-allelic variants in this gene. Presentation was in early childhood with hypotonia, global developmental delay, delayed walking at about age 3 years, and severely impaired intellectual development with profound speech delay or even absent language. All also developed epilepsy between 7 and 10 years of age, but the seizures were controlled by medication in most. Subtle nonspecific dysmorphic features included poor overall growth, large forehead, tall face, mild hypertelorism, joint hyperlaxity, and long fingers and toes. Brain imaging in all 5 individuals showed cerebellar atrophy and dysplasia. Additional cerebellar features, such as tremor, ataxia, and nystagmus, were not noted in these individuals.
Sources: Literature
Created: 3 Mar 2022, 5:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000

Publications

Created: 3 Mar 2022, 5:51 a.m.

Panel version: 0.4729

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000
OMIM
605609
Clinvar variants
Variants in OXR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: oxr1 has been classified as Amber List (Moderate Evidence).

3 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: oxr1 has been classified as Amber List (Moderate Evidence).

3 Mar 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: OXR1 was added gene: OXR1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXR1 were set to PMID: 31785787 Phenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000 Review for gene: OXR1 was set to GREEN