Adult onset neurodegenerative disorder
Gene: SORD

SORD (sorbitol dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000140263
EnsemblGeneIds (GRCh37): ENSG00000140263
OMIM: 182500, Gene2Phenotype
SORD is in 3 panels

1 review

Oliver Ziff (University College London)

Green List (high evidence)

Prevalent cause of recessive dHMN/CMT2. It frequently presents as progressive LMN weakness in adulthood, making it a critical, potentially treatable ALS mimic. Inclusion prevents sequential WGS reanalysis on R460.1 requests.
Sources: Expert Review, Literature
Created: 22 May 2026, 1:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912; Neuropathy, distal hereditary motor, OMIM:158590

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 May 2026, 1:25 p.m.

Panel version: 9.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912
Neuropathy, distal hereditary motor, OMIM:158590

OMIM

182500

Clinvar variants

Variants in SORD

Penetrance

Complete

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

22 May 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Oliver Ziff (University College London)

gene: SORD was added gene: SORD was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SORD were set to 323670585; 33314640; 33397963 Phenotypes for gene: SORD were set to Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912; Neuropathy, distal hereditary motor, OMIM:158590 Penetrance for gene: SORD were set to Complete Mode of pathogenicity for gene: SORD was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: SORD was set to GREEN gene: SORD was marked as current diagnostic

Adult onset neurodegenerative disorder Gene: SORD