Hereditary neuropathy or pain disorder
Gene: SORDNHS 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
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
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
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
Tag for-review was removed from gene: SORD. Tag Q3_21_NHS_review was removed from gene: SORD.
Source Expert Review Green was added to SORD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_NHS_review tag was added to gene: SORD.
Publications for gene: SORD were set to 32367058; 33314640; 33397963
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
Tag for-review tag was added to gene: SORD.
Gene: sord has been classified as Amber List (Moderate Evidence).
Publications for gene: SORD were set to 32367058
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