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| Hereditary neuropathy or pain disorder v7.43 | SOD1 | Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated patients reported in literature with heterozygous SOD1 variants and hereditary neuropathy (motor and/ or sensory), often diagnosed as CMT disease. Sensory neuropathy may precede classical motor symptoms of ALS. Hence, SOD1 should be promoted to Green at the next GMS update.; to: Comment on list classification: There are more than 3 unrelated patients reported in literature with heterozygous SOD1 variants and hereditary neuropathy (motor and/ or sensory), often diagnosed as CMT disease. Sensory neuropathy may precede classical motor symptoms of ALS. Hence, SOD1 should be promoted to Green on Hereditary neuropathy or pain disorder at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.43 | SOD1 | Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated patients reported in literature with heterozygous SOD1 variants and hereditary neuropathy (motor and/ or sensory). Sensory neuropathy may precede classical motor symptoms of ALS. Hence, SOD1 should be promoted to Green at the next GMS update.; to: Comment on list classification: There are more than 3 unrelated patients reported in literature with heterozygous SOD1 variants and hereditary neuropathy (motor and/ or sensory), often diagnosed as CMT disease. Sensory neuropathy may precede classical motor symptoms of ALS. Hence, SOD1 should be promoted to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.43 | SOD1 | Ida Ertmanska Classified gene: SOD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.43 | SOD1 | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated patients reported in literature with heterozygous SOD1 variants and hereditary neuropathy (motor and/ or sensory). Sensory neuropathy may precede classical motor symptoms of ALS. Hence, SOD1 should be promoted to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.43 | SOD1 | Ida Ertmanska Gene: sod1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.42 | SOD1 |
Ida Ertmanska gene: SOD1 was added gene: SOD1 was added to Hereditary neuropathy or pain disorder. Sources: Literature Q1_26_promote_green tags were added to gene: SOD1. Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOD1 were set to 22475618; 36316849; 39932579 Phenotypes for gene: SOD1 were set to Charcot-Marie-Tooth disease, MONDO:0015626; Amyotrophic lateral sclerosis 1, OMIM:105400 Review for gene: SOD1 was set to GREEN Added comment: PMID: 39932579 Ando et al., 2025 17 Japanese patients with 10 different missense SOD1 variants and peripheral neuropathy with avg onset at 47 years. Electrophysiology predominantly indicated a length-dependent, motor-dominant axonal neuropathy. Distal muscle weakness was noted in 9/13 patients, asymmetric muscle weakness and atrophy in 10/14, mild sensory disturbances observed in 8 patients, with some showing hyperreflexia and abnormal reflexes. PMID: 36316849 Luo et al., 2022 Case report: 50yo female patient with hereditary motor and sensory neuropathy (CMT diagnosis). Presented with weakness of lower extremities. Heterozygous SOD1 c.140A>G, p(.His47Arg) was detected. Father with similar disease progression starting at age 50, not genotyped (deceased). PMID: 22475618 Østern et al., 2012 Large Norwegian pedigree with hereditary neuropathy (diagnosis of CMT type 2), segregating with SOD1 c.140A>G, p.His47Arg variant. PMID: 37610446 Bombaci et al., 2023 - literature review of ALS cases Many authors reported an overlap of both sensory and motor symptoms in ALS patients. 20/29 ALS patients from case reports had sensory symptoms - common in spinal onset ALS. If sensory neuropathy precedes ALS there is usually a delay in ALS diagnosis. SOD1 is linked to AD, AR Amyotrophic lateral sclerosis 1, OMIM:105400 & AR Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598 (OMIM accessed 12th Mar 2026). Sources: Literature |
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