DDG2P
Gene: PHEX

PHEX (phosphate regulating endopeptidase homolog X-linked)
EnsemblGeneIds (GRCh38): ENSG00000102174
EnsemblGeneIds (GRCh37): ENSG00000102174
OMIM: 300550, Gene2Phenotype
PHEX is in 8 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PHEX-related hypophosphatemic rickets are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 15029877, 16055933, 18252791, 2894375, 32329911, 34633109, 35896147, 37059315, 38722819, 39710377, 39877728). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03769.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

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
PHEX-related hypophosphatemic rickets; MONDO:0010619; OMIM:307800.0

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

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

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0010619
PHEX-related hypophosphatemic rickets
OMIM:307800.0

OMIM

300550

Clinvar variants

Variants in PHEX

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PHEX was added gene: PHEX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 2894375; 18252791; 15029877; 39877728; 39710377; 16055933; 34633109; 32329911; 38722819; 35896147; 37059315 Phenotypes for gene: PHEX were set to MONDO:0010619; PHEX-related hypophosphatemic rickets; OMIM:307800.0

DDG2P Gene: PHEX