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  3. SORD
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Hereditary neuropathy

Gene: SORD

Green List (high evidence)
SORD (sorbitol dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000140263
EnsemblGeneIds (GRCh37): ENSG00000140263
OMIM: 182500, Gene2Phenotype
SORD is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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
Created: 12 Aug 2021, 2:42 p.m.
Last Modified: 12 Aug 2021, 2:42 p.m.
Panel version: 1.399

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

bialleleic variants present in more than 3 unrelated families
Sources: Expert list
Created: 8 Mar 2021, 9:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CMT2

Publications

Created: 8 Mar 2021, 9:37 a.m.

Panel version: 1.383

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912
  • sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055
OMIM
182500
Clinvar variants
Variants in SORD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sord has been classified as Green List (High Evidence).

12 Aug 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SORD were set to PMID: 32367058

12 Aug 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

8 Mar 2021, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

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