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Hereditary neuropathy NOT PMP22 copy number

Gene: SORD

Amber List (moderate evidence)

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

3 reviews

James Polke (North Thames GLH)

Green List (high evidence)

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)

Green List (high evidence)

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: Literature
Created: 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 Amber
Phenotypes
  • Neuropathy
Tags
for-review
OMIM
182500
Clinvar variants
Variants in SORD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: SORD.

28 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sord has been classified as Amber List (Moderate Evidence).

28 Jan 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SORD were set to 32367058

3 Jun 2020, Gel status: 0

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