Genomics England
GMS Panels
Panels
Genes and Entities

OXR1

oxidation resistance 1
OMIM: 605609
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000