Genomics England
GMS Panels
Panels
Genes and Entities

SOD1

superoxide dismutase 1
OMIM: 147450
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary spastic paraplegia, childhood onset
R-numbers: R61
Signed-off version 9.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 1, OMIM:105400, Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598