1. Panels
  2. Intellectual disability
  3. SOD1
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: SOD1

Amber List (moderate evidence)
SOD1 (superoxide dismutase 1)
EnsemblGeneIds (GRCh38): ENSG00000142168
EnsemblGeneIds (GRCh37): ENSG00000142168
OMIM: 147450, Gene2Phenotype
SOD1 is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Inclusion on this panel would also ensure inclusion on the Hypotonic Infant super panel which is a significant feature observed in affected individuals.
Created: 17 Oct 2025, 11:39 a.m. | Last Modified: 17 Oct 2025, 11:39 a.m.
Panel Version: 9.136
At least 10 individuals from 7 unrelated families have been identified with biallelic variants in the SOD1 gene and progressive spastic tetraplegia with age of onset before 2 years old. A recurrent variant (c.335dupG, p.Cys112Trpfs*11) was found in four apparently unrelated families of Afghan or Lebanese descent, while the other three families carried other homozygous LOF variants (c.357_357+2delGGT, c.52_56del5ins154, c.369_371del). Variants are predicted to lead to a completely non-functional enzyme product. The phenotype comprises early-onset progressive neuromuscular and developmental degeneration, leading to spastic tetraplegia and axial hypotonia. Most patients display global developmental delay (ranging from mild to profound cognitive impairment) and cerebellar atrophy (PMIDs: 31314961; 31332433; 34380534; 34788402; 36935613; 39629626)

This gene is associated with a relevant phenotype in OMIM - Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598 (accessed on 17-10-2025)
Sources: Literature
Created: 17 Oct 2025, 11:35 a.m. | Last Modified: 17 Oct 2025, 11:36 a.m.
Panel Version: 9.135

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598

Publications

Created: 17 Oct 2025, 11:35 a.m.
Last Modified: 17 Oct 2025, 11:36 a.m.
Panel version: 9.135

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598
Tags
Q3_25_promote_green
OMIM
147450
Clinvar variants
Variants in SOD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Oct 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: sod1 has been classified as Amber List (Moderate Evidence).

17 Oct 2025, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: SOD1 was added gene: SOD1 was added to Intellectual disability. Sources: Literature Q3_25_promote_green tags were added to gene: SOD1. Mode of inheritance for gene: SOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SOD1 were set to 31314961; 31332433; 34380534; 34788402; 36935613; 39629626 Phenotypes for gene: SOD1 were set to Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598 Review for gene: SOD1 was set to GREEN