Calcium and Phosphate disorders
Gene: PHEX

PHEX (phosphate regulating endopeptidase homolog X-linked)
EnsemblGeneIds (GRCh38): ENSG00000102174
EnsemblGeneIds (GRCh37): ENSG00000102174
OMIM: 300550, Gene2Phenotype
PHEX is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Hypophosphatemic rickets, MIM#307800

Created: 3 Feb 2020, 7:30 a.m.
Last Modified: 3 Feb 2020, 7:30 a.m.
Panel version: 0.18

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Hypophosphatemic rickets

Publications

PMID: 12727977
30682568

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Feb 2020, 5:20 a.m.
Last Modified: 3 Feb 2020, 5:20 a.m.
Panel version: Imported from Hypophosphataemic Rickets panel version 0.1

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
KidGen_CalcPhos v38.1.0

Phenotypes

Hypophosphatemic rickets, MIM#307800

OMIM

300550

Clinvar variants

Variants in PHEX

Penetrance

None

Panels with this gene