Genomics England
GMS Panels
Panels
Genes and Entities

SOD1

superoxide dismutase 1
OMIM: 147450
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset neurodegenerative disorder
Component of the following Super Panels:
  • - Adult-onset neurological disorders
R-numbers: R58
Signed-off version 9.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 1, OMIM:105400, Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598