Hereditary neuropathy or pain disorder
Gene: SORDEnsemblGeneIds (GRCh38): ENSG00000140263
EnsemblGeneIds (GRCh37): ENSG00000140263
OMIM: 182500, Gene2Phenotype
SORD is in 2 panels
4 reviews
Sarah Leigh (Genomics England Curator)
NHS Genomic Medicine Service consideration - coverage and variant calling will be compromised by pseudogene issue.Created: 3 Mar 2022, 6:31 p.m. | Last Modified: 3 Mar 2022, 6:31 p.m.
Panel Version: 1.83
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 6:31 p.m. | Last Modified: 3 Mar 2022, 6:31 p.m.
Panel Version: 1.83
James Polke (North Thames GLH)
Very common cause of peripheral neuropathy. Analysis complicated by SORD2P pseudogene with very high homology to SORD that may affect NGS and complicates Sanger confirmation of variants (see PMID 33875678).Created: 27 May 2021, 8:35 p.m. | Last Modified: 27 May 2021, 8:35 p.m.
Panel Version: 1.25
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peripheral Neuropathy; Charcot-Marie Tooth Disease; Sorbitol dehydrogenase deficiency with peripheral neuropathy (OMIM # 618912)
Publications
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics) and recommended to be Green by David Hunt (Wessex Clinical Genetics Service).
"Given that this is a potentially treatable neuropathy (https://www.ucl.ac.uk/ion/news/2020/may/sord-neuropathy-accelerated-journey-gene-identification-effective-treatment-patients) I think that SORD should be included in the ‘Hereditary neuropathy NOT PMP22 copy number’ gene panel."
There is enough evidence to support a gene-disease association and this gene should be Green at the next review.Created: 28 Jan 2021, 9:50 a.m. | Last Modified: 28 Jan 2021, 9:50 a.m.
Panel Version: 1.23
Zornitza Stark (Australian Genomics)
45 individuals from 38 families across multiple ancestries carrying the nonsense c.757delG
(p.Ala253GlnfsTer27) variant in SORD, in either a homozygous or compound heterozygous state .
Sources: LiteratureCreated: 3 Jun 2020, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag for-review was removed from gene: SORD. Tag Q3_21_NHS_review was removed from gene: SORD.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to SORD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_NHS_review tag was added to gene: SORD.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SORD were set to 32367058; 33314640; 33397963
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SORD were changed from Neuropathy to Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912; sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: SORD.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sord has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SORD were set to 32367058
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: SORD was added gene: SORD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SORD were set to 32367058 Phenotypes for gene: SORD were set to Neuropathy Review for gene: SORD was set to GREEN gene: SORD was marked as current diagnostic