Gene:
PHEX
phosphate regulating endopeptidase homolog, X-linked

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 contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

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?

Overview

Alternate Names:  None
Alternate Symbols:  HPDR1; HYP1; PEX; XLH
PharmGKB Accession Id: PA33258

Details

Cytogenetic Location: chrX : p22.2 - p22.11
GP mRNA Boundary: chrX : 22050921 - 22266478
GP Gene Boundary: chrX : 22040921 - 22269478
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.

Publications related to PHEX: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Human genetics. 2009. Gaucher CĂ©line, et al. PubMed

LinkOuts

Entrez Gene:
5251
OMIM:
300550
307800
UCSC Genome Browser:
NM_000444
RefSeq RNA:
NM_000444
RefSeq Protein:
NP_000435
RefSeq DNA:
AC_000066
AC_000155
NC_000023
NG_007563
NT_167197
NW_001842360
NW_927700
UniProtKB:
PHEX_HUMAN (P78562)
Ensembl:
ENSG00000102174
GenAtlas:
PHEX
GeneCard:
PHEX
MutDB:
PHEX
ALFRED:
LO004341M
HuGE:
PHEX
Comparative Toxicogenomics Database:
5251
ModBase:
P78562
HumanCyc Gene:
HS02363
HGNC:
8918

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