1. Genes and Genomic Entities
  2. OXR1

OXR1

oxidation resistance 1
OMIM: 605609, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green OXR1 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
    Amber OXR1 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.42
    Latest signed off version: v6.34 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • sensorineural hearing loss disorder, MONDO:0020678
    Green OXR1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000
    Green OXR1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000