PHEX Chromosome X

Phosphate regulating endopeptidase X-linked
699 variants 699 Health Risk

Upload your DNA to see your personal genotypes for variants in PHEX.

What This Gene Does
The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
M13 metallopeptidases
Locus Type
gene with protein product
Location
Xp22.11
Ensembl
ENSG00000102174
Associated Conditions (16)
Familial X-linked hypophosphatemic vitamin D refractory rickets
Inborn genetic diseases
Intellectual disability
PHEX-related disorder
Thyroid cancer
nonmedullary
1
Hypophosphatemic rickets
Nonpapillary renal cell carcinoma
See cases
Lower limb pain
Bowing of the legs
Hypophosphataemia or rickets
Vitamin D-dependent rickets
type 2
Autosomal dominant hypophosphatemic rickets
Key Variants
RS1057517797
Conflicting classifications of pathogenicity
Health Risk
RS1057517904
Conflicting classifications of pathogenicity
Health Risk
RS1057524608
Conflicting classifications of pathogenicity
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
Health Risk
RS1064793226
Conflicting classifications of pathogenicity
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
Health Risk
RS1064795949
Conflicting classifications of pathogenicity
Health Risk
RS1064796435
Conflicting classifications of pathogenicity
Health Risk
RS1293482406
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1365010493
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138497409
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140742016
Conflicting classifications of pathogenicity
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
Health Risk
RS144911719
Conflicting classifications of pathogenicity
Health Risk
RS145393882
Conflicting classifications of pathogenicity
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
Health Risk
All Variants (699)
RSID Category Clinical Significance Conditions
RS1057517797 Health Risk Conflicting classifications of pathogenicity —
RS1057517904 Health Risk Conflicting classifications of pathogenicity —
RS1057524608 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1064793226 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1064795949 Health Risk Conflicting classifications of pathogenicity —
RS1064796435 Health Risk Conflicting classifications of pathogenicity —
RS1293482406 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1365010493 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138497409 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140742016 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS144911719 Health Risk Conflicting classifications of pathogenicity —
RS145393882 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS145778165 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Intellectual disability, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS145881500 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS147859619 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, PHEX-related disorder, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS149487757 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS151306376 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Inborn genetic diseases, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556014284 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556135242 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602273945 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602402549 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602405293 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602412679 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1927580756 Health Risk Conflicting classifications of pathogenicity —
RS1930964041 Health Risk Conflicting classifications of pathogenicity —
RS1935508894 Health Risk Conflicting classifications of pathogenicity —
RS1935549921 Health Risk Conflicting classifications of pathogenicity —
RS1936363158 Health Risk Conflicting classifications of pathogenicity —
RS200733697 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Inborn genetic diseases, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS201343697 Health Risk Conflicting classifications of pathogenicity —
RS202164519 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Inborn genetic diseases, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518674832 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS370746437 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS371825581 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, PHEX-related disorder, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS373261521 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS375593493 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Inborn genetic diseases, Thyroid cancer
RS376291775 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376461141 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS534550003 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Hypophosphatemic rickets, PHEX-related disorder
RS539005958 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746847960 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS752729907 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets, Hypophosphatemic rickets
RS757539874 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762828809 Health Risk Conflicting classifications of pathogenicity —
RS765787001 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, PHEX-related disorder, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS774768015 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774907553 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, PHEX-related disorder, Inborn genetic diseases
RS777167473 Health Risk Conflicting classifications of pathogenicity —
RS781248973 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886042234 Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
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