Gene:
SPG7
spastic paraplegia 7 (pure and complicated autosomal recessive)

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA
rs12960 1180945G>A, 2063G>A, 50524G>A, 89620328G>A, Arg688Gln, NM_003119.2:c.2063G>A, NP_003110.1:p.Arg688Gln, SPG7:rs12960 A>G
G > A
Missense
Arg688Gln
No VIP available No Clinical Annotations available VA
rs2019604 1176382T>G, 1664-1137T>G, 45961T>G, 89615765T>G
T > G
Intronic
No VIP available CA VA
rs2292954 1173740A>G, 1507A>G, 43319A>G, 89613123A>G, NM_003119.2:c.1507A>G, NP_003110.1:p.Thr503Ala, SPG7:rs2292954 C>T, Thr503Ala
A > G
Missense
Thr503Ala
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  paraplegin
Alternate Symbols:  CAR; SPG5C
PharmGKB Accession Id: PA36067

Details

Cytogenetic Location: chr16 : q24.3 - q24.3
GP mRNA Boundary: chr16 : 89574805 - 89624174
GP Gene Boundary: chr16 : 89564805 - 89627174
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
docetaxel
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
thalidomide

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Neoplasms
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Prostatic Neoplasms

Publications related to SPG7: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pharmacogenomic Prediction of Anthracycline-Induced Cardiotoxicity in Children. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2011. Visscher Henk, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform. The pharmacogenomics journal. 2010. Deeken J F, et al. PubMed

LinkOuts

Entrez Gene:
6687
OMIM:
602783
607259
UCSC Genome Browser:
NM_003119
RefSeq RNA:
NM_003119
NM_199367
RefSeq Protein:
NP_003110
NP_955399
MutDB:
SPG7
ALFRED:
LO160283U
HuGE:
SPG7
Comparative Toxicogenomics Database:
6687
ModBase:
Q9UQ90
HGNC:
11237

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