Genomics England
GMS Panels
Panels
Genes and Entities

OXR1

oxidation resistance 1
OMIM: 605609
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000