Gene:
POLG
polymerase (DNA directed), gamma
PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.
Annotated Labels
- Annotation of FDA Label for divalproex sodium and POLG
- Annotation of FDA Label for valproic acid and ABL2,ASL,ASS1,CPS1,NAGS,OTC,POLG
- Annotation of HCSC Label for divalproex sodium and POLG
- Annotation of HCSC Label for valproic acid and OTC,POLG
1. Annotation of FDA Label for divalproex sodium and POLG
Summary
The FDA-approved drug label for divalproex states that it is contraindicated in individuals with known mitochondrial disorders caused by mutations in mitochondrial DNA polymerase gamma (POLG), and suspected POLG-related disorders in children under 2 years old.
There's more of this label. Read more.
2. Annotation of FDA Label for valproic acid and ABL2,ASL,ASS1,CPS1,NAGS,OTC,POLG
Summary
Valproic acid is used to treat patients with various types of seizures. The FDA-approved drug label for valproic acid notes that it is contraindicated in patients with known urea cycle disorders (UCDs), a group of uncommon genetic abnormalities, since these patients can sometimes experience fatal hyperammonemic encephalopathy following initiation of treatment. It is also contraindicated in patients with POLG mutations. However, the label does not explicitly mention testing for genetic mutations leading to UCDs or POLG mutations prior to valproic acid treatment.
There's more of this label. Read more.
3. Annotation of HCSC Label for divalproex sodium and POLG
Summary
The product monograph for divalproex states that it is contraindicated in patients known to have mitochondrial disorders caused by mutations in mitochondrial DNA polymerase gamma (POLG), and in children under two years of age who are suspected of having a POLG-related disorder.
There's more of this label. Read more.
4. Annotation of HCSC Label for valproic acid and OTC,POLG
Summary
The product monograph for valproic acid states that it is contraindicated in patients with mitochondrial disorders caused by mutations in mitochondrial DNA polymerase gamma (POLG) or in patients with known urea cycle disorders, particularly ornithine transcarbamylase (OTC) deficiency.
There's more of this label. Read more.
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.
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.
List of all variant annotations for POLG
|
Variant?
(147) |
Alternate Names ? | Chemicals ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs2307441 | NC_000015.10:g.89318595T>C, NC_000015.9:g.89861826T>C, NG_008218.1:g.21201A>G, NG_011736.1:g.79633T>C, NM_001126131.1:c.3428A>G, NM_002693.2:c.3428A>G, NP_001119603.1:p.Glu1143Gly, NP_002684.1:p.Glu1143Gly, rs17804944, rs3176226 |
T > C
|
SNP |
E1143G
|
||
| rs3087374 | NC_000015.10:g.89316763C>A, NC_000015.9:g.89859994C>A, NG_008218.1:g.23033G>T, NG_011736.1:g.77801C>A, NM_001113378.1:c.*304C>A, NM_001126131.1:c.3708G>T, NM_002693.2:c.3708G>T, NM_018193.2:c.*304C>A, NP_001119603.1:p.Gln1236His, NP_002684.1:p.Gln1236His, XM_005254946.1:c.*304C>A, XM_005254947.1:c.*304C>A, XM_005254948.1:c.*304C>A, XM_005254949.1:c.*304C>A, XM_005254950.1:c.*304C>A, XM_005254951.1:c.*304C>A, XM_005254952.1:c.*304C>A, XM_005254953.1:c.*304C>A, XM_011521756.1:c.*304C>A, XM_011521757.1:c.*304C>A, XM_011521758.1:c.*304C>A, XM_011521759.1:c.*304C>A, XM_011521760.1:c.*304C>A, XM_011521761.1:c.*304C>A, XM_011521762.1:c.*304C>A, XM_011521763.1:c.*304C>A, XM_011521764.1:c.*304C>A, XM_011521765.1:c.*304C>A, XM_011521766.1:c.*304C>A, XM_011521767.1:c.*304C>A, XM_011521769.1:c.*304C>A, XR_243211.1:n.4144C>A, XR_243212.1:n.3964C>A, rs17804776, rs3176244, rs386579081, rs61472028 |
C > A
C > T
|
SNP |
Q1236H
|
Overview
| Alternate Names: | None |
|---|---|
| Alternate Symbols: | POLG1; POLGA |
| PharmGKB Accession Id: | PA33500 |
Details
| Cytogenetic Location: | chr15 : q26.1 - q26.1 |
|---|---|
| GP mRNA Boundary†: | chr15 : 89859536 - 89878026 |
| GP Gene Boundary†: | chr15 : 89856536 - 89888026 |
| Strand: | minus |
Visualization
UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.
View on UCSC BrowserPublications related to POLG: 10
LinkOuts
- UniProtKB:
- DPOG1_HUMAN (P54098)
- Ensembl:
- ENSG00000140521
- GenAtlas:
- POLG
- GeneCard:
- POLG
- MutDB:
- POLG
- ALFRED:
- LO010452M