OXR1

oxidation resistance 1
OMIM: 605609, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green OXR1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

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

Green OXR1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • seizures
  • cerebellar atrophy

Green OXR1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

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

    Green OXR1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    • seizures
    • cerebellar atrophy

    Amber OXR1 in Fetal anomalies


    Version 1.255

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