Hereditary neuropathy
Gene: SORDComment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 7 variants reported in unrelated cases. Functional studies showed undetectable SORD protein levels and increased intracellular sorbitol accumulation in patient fibroblasts compared to controls (PMID 32367058).Created: 12 Aug 2021, 2:42 p.m. | Last Modified: 12 Aug 2021, 2:42 p.m.
Panel Version: 1.399
bialleleic variants present in more than 3 unrelated families
Sources: Expert listCreated: 8 Mar 2021, 9:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CMT2
Publications
Gene: sord has been classified as Green List (High Evidence).
Publications for gene: SORD were set to PMID: 32367058
Phenotypes for gene: SORD were changed from CMT2 to Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912; sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055
gene: SORD was added gene: SORD was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SORD were set to PMID: 32367058 Phenotypes for gene: SORD were set to CMT2 Penetrance for gene: SORD were set to Complete Review for gene: SORD was set to GREEN