1. Panels
  2. Newborns main panel
  3. PHEX
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

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 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: Up to 43% of cases due to deletions or duplications.
Created: 26 Sep 2024, 3:58 p.m. | Last Modified: 26 Sep 2024, 3:58 p.m.
Panel Version: 0.469
Special Consideration: Females should be reported.

Additional Information: Report males and females.
Created: 26 Sep 2024, 3:57 p.m. | Last Modified: 26 Sep 2024, 3:57 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 3:57 p.m.
Last Modified: 26 Sep 2024, 3:57 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Up to 43% of cases due to deletions/duplications
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Hypophosphatemic rickets is XLD and affects het females same way as hemi males (100% penetrance too).
Created: 10 Mar 2023, 11:03 a.m. | Last Modified: 10 Mar 2023, 11:03 a.m.
Panel Version: 0.41
Created: 10 Mar 2023, 11:03 a.m.
Last Modified: 10 Mar 2023, 11:03 a.m.
Panel version: 0.137

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
Phenotypes
  • Hypophosphatemic rickets, X-linked dominant
Tags
special_consideration
OMIM
300550
Clinvar variants
Variants in PHEX
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: PHEX.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypophosphatemic rickets, X-linked dominant for gene: PHEX

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypophosphatemic rickets, X-linked dominant for gene: PHEX

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PHEX. Added phenotypes Hypophosphatemic rickets, X-linked dominant for gene: PHEX Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to PHEX. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypophosphatemic rickets, X-linked dominant for gene: PHEX

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PHEX was added gene: PHEX was added to Newborns main panel. Sources: 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)