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Newborns main panel

Gene: SORD

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:11184 PMID: 32367058 - 38 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy
OMIM
182500
Clinvar variants
Variants in SORD
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Sorbitol dehydrogenase deficiency with peripheral neuropathy for gene: SORD

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SORD. Added phenotypes Sorbitol dehydrogenase deficiency with peripheral neuropathy for gene: SORD Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to SORD. Added phenotypes Sorbitol dehydrogenase deficiency with peripheral neuropathy for gene: SORD Rating Changed from No List (delete) to Red List (low evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SORD was added gene: SORD was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SORD were set to Sorbitol dehydrogenase deficiency with peripheral neuropathy