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  2. Renal Tubulopathies and related disorders
  3. PHEX
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Renal Tubulopathies and related disorders

Gene: PHEX

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

3 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: Imported from Calcium and Phosphate disorders 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

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 Calcium and Phosphate disorders panel version Imported from Hypophosphataemic Rickets panel version 0.1

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Nephrocalcinosis well reported in this condition.
Sources: Literature
Created: 16 Jan 2020, 5:11 a.m.

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, X-linked dominant; OMIM #307800

Publications

Created: 16 Jan 2020, 5:11 a.m.

Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.8

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
  • Literature
  • Expert Review Green
  • Literature
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Hypophosphatemic rickets, X-linked dominant
  • OMIM #307800
OMIM
300550
Clinvar variants
Variants in PHEX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHEX was added gene: PHEX was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHEX were set to 31065622 Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant; OMIM #307800