1. Panels
  2. Hereditary Neuropathy_CMT - isolated
  3. SORD
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Neuropathy_CMT - isolated

Gene: SORD

Green List (high evidence)
SORD (sorbitol dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000140263
EnsemblGeneIds (GRCh37): ENSG00000140263
OMIM: 182500, Gene2Phenotype
SORD is in 3 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

On 13/04/2023 - Definitive gene-disease association on ClinGen - https://search.clinicalgenome.org/CCID:006246

The mechanism of disease appears to be loss of function.
Created: 9 Apr 2024, 1 a.m. | Last Modified: 9 Apr 2024, 1 a.m.
Panel Version: 1.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease (MONDO:0015626)

Publications

  • https://search.clinicalgenome.org/CCID:006246

Created: 9 Apr 2024, 1 a.m.
Last Modified: 9 Apr 2024, 1 a.m.
Panel version: 1.39

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912

Created: 21 Jun 2020, 7:34 a.m.
Last Modified: 21 Jun 2020, 7:34 a.m.
Panel version: 0.46

Seb Lunke (Victorian Clinical Genetics Services)

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: 1 Jun 2020, 4:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
isolated hereditary neuropathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Jun 2020, 4:32 a.m.

Panel version: 0.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • isolated hereditary neuropathy
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912
OMIM
182500
Clinvar variants
Variants in SORD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SORD were changed from isolated hereditary neuropathy to isolated hereditary neuropathy; Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

1 Jun 2020, Gel status: 1

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: SORD was added gene: SORD was added to Hereditary Neuropathy_CMT - isolated. 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 isolated hereditary neuropathy gene: SORD was marked as current diagnostic