SORD
Basic information
Region (hg38): 15:45023146-45077185
Links
Phenotypes
GenCC
Source:
- neuronopathy, distal hereditary motor, autosomal recessive 8 (Moderate), mode of inheritance: AR
- neuronopathy, distal hereditary motor, autosomal recessive 8 (Strong), mode of inheritance: AR
- Charcot-Marie-Tooth disease (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Neuronopathy, distal hereditary motor, autosomal recessive 8 | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Audiologic/Otolaryngologic; Biochemical; Musculoskeletal; Neurologic | 32367058 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SORD gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 11 | 16 | ||||
missense | 25 | 31 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 5 | |||||
inframe indel | 2 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 2 | 2 | ||||
non coding | 25 | 25 | ||||
Total | 2 | 1 | 30 | 12 | 35 |
Highest pathogenic variant AF is 0.000282
Variants in SORD
This is a list of pathogenic ClinVar variants found in the SORD region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-45023326-C-T | Inborn genetic diseases | Uncertain significance (Nov 21, 2022) | ||
15-45023330-G-C | Inborn genetic diseases | Uncertain significance (Jun 10, 2024) | ||
15-45023333-C-T | Neuronopathy, distal hereditary motor, autosomal recessive 8 | Uncertain significance (Nov 16, 2023) | ||
15-45023338-G-C | Inborn genetic diseases | Uncertain significance (Apr 08, 2024) | ||
15-45023344-C-A | Inborn genetic diseases | Uncertain significance (Mar 01, 2024) | ||
15-45040405-TAGG-T | Uncertain significance (Feb 01, 2023) | |||
15-45040409-AGAACTATCCTATCCCT-A | Neuronopathy, distal hereditary motor, autosomal recessive 8 | Likely pathogenic (Jul 17, 2023) | ||
15-45043079-T-C | Benign (May 25, 2021) | |||
15-45043267-G-GA | Pathogenic (Feb 01, 2024) | |||
15-45043273-G-A | Inborn genetic diseases | Uncertain significance (Jan 02, 2024) | ||
15-45043286-A-G | Uncertain significance (May 01, 2023) | |||
15-45043305-A-G | Inborn genetic diseases | Uncertain significance (May 24, 2023) | ||
15-45043338-T-C | Uncertain significance (May 01, 2023) | |||
15-45043375-G-A | Likely benign (Jun 01, 2024) | |||
15-45060867-G-A | Benign (May 16, 2021) | |||
15-45061032-C-T | Neuronopathy, distal hereditary motor, autosomal recessive 8 | Benign (Jul 15, 2021) | ||
15-45061075-G-C | Inborn genetic diseases | Uncertain significance (Dec 13, 2023) | ||
15-45061088-C-T | Neuronopathy, distal hereditary motor, autosomal recessive 8 | Uncertain significance (Feb 03, 2022) | ||
15-45061099-C-T | Pathogenic (May 08, 2023) | |||
15-45061105-AATG-A | Neuronopathy, distal hereditary motor, autosomal recessive 8 | Uncertain significance (Sep 06, 2021) | ||
15-45061129-C-T | Neuronopathy, distal hereditary motor, autosomal recessive 8 | Conflicting classifications of pathogenicity (Sep 21, 2023) | ||
15-45061160-G-A | Inborn genetic diseases | Uncertain significance (Jan 17, 2024) | ||
15-45061162-G-C | Neuronopathy, distal hereditary motor, autosomal recessive 8 | Likely pathogenic (-) | ||
15-45061173-C-T | Likely benign (Mar 01, 2021) | |||
15-45061179-C-T | Likely benign (Mar 01, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SORD | protein_coding | protein_coding | ENST00000267814 | 9 | 54082 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
4.49e-8 | 0.382 | 125678 | 0 | 70 | 125748 | 0.000278 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.351 | 185 | 172 | 1.08 | 0.00000953 | 2254 |
Missense in Polyphen | 62 | 62.735 | 0.98829 | 746 | ||
Synonymous | -0.588 | 75 | 68.8 | 1.09 | 0.00000406 | 729 |
Loss of Function | 0.739 | 13 | 16.2 | 0.802 | 0.00000104 | 204 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00113 | 0.00111 |
Ashkenazi Jewish | 0.000237 | 0.000198 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000234 | 0.000229 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000269 | 0.000261 |
Other | 0.000340 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Converts sorbitol to fructose. Part of the polyol pathway that plays an important role in sperm physiology. May play a role in the sperm motility by providing an energetic source for sperm. {ECO:0000250|UniProtKB:Q64442, ECO:0000269|PubMed:16278369}.;
- Pathway
- Fructose and mannose metabolism - Homo sapiens (human);Pentose and glucuronate interconversions - Homo sapiens (human);Fructose intolerance, hereditary;Fructose and Mannose Degradation;Fructosuria;Polyol Pathway;Fructose biosynthesis;Fructose metabolism;Metabolism of carbohydrates;Fructose Mannose metabolism;Metabolism;sorbitol degradation I;Catabolism of glucuronate to xylulose-5-phosphate
(Consensus)
Recessive Scores
- pRec
- 0.603
Intolerance Scores
- loftool
- 0.766
- rvis_EVS
- 0.86
- rvis_percentile_EVS
- 88.74
Haploinsufficiency Scores
- pHI
- 0.490
- hipred
- N
- hipred_score
- 0.343
- ghis
- 0.409
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.607
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Sord
- Phenotype
- normal phenotype; vision/eye phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- glucose metabolic process;sorbitol catabolic process;response to osmotic stress;response to hormone;glucuronate catabolic process to xylulose 5-phosphate;flagellated sperm motility;response to nutrient levels;response to drug;fructose biosynthetic process;response to cadmium ion;response to copper ion;L-xylitol catabolic process;L-xylitol metabolic process;oxidation-reduction process
- Cellular component
- extracellular space;cytosol;membrane;motile cilium;mitochondrial membrane;extracellular exosome
- Molecular function
- L-iditol 2-dehydrogenase activity;zinc ion binding;carbohydrate binding;identical protein binding;D-xylulose reductase activity;NAD binding