Hypophosphataemia or rickets

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

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Pathogenic variants in this gene are the most common cause of Hypophosphatemic rickets (PMID: 19219621)
Created: 28 Jan 2019, 10:38 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
Hypophosphatemia; rickets

Publications

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

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 11:44 a.m.
PHEX is a green gene on the Skeletal dysplasia panel (Version 1.129).
Created: 30 Nov 2018, 3 p.m.
Comment when marking as ready: OMIM has confirmed that PHEX is associated with hypophosphataemic rickets; however, no phenotype is listed wih PHEX on Gene2Phenotype. One study reported 20 patients from 12 unrelated familes with variants in this gene with this phenotype (PMID: 29505567). Another study reported variants in 21 probands (PMID: 22695891). More than 3 families reported with variants in this gene diagnosed with this phenotype on OMIM. Also, based on the review by Sian Ellard (University of Exeter Medical School).
Created: 28 Nov 2018, 1:55 p.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Pathogenic PHEX variants are the most common cause of hypophosphataemic rickets
Created: 24 Nov 2018, 3:18 p.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)

Publications

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

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
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
Phenotypes
  • Hypophosphatemic rickets, X-linked dominant (307800)
OMIM
300550
Clinvar variants
Variants in PHEX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Sian Ellard: Pathogenic PHEX variants are t

28 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: phex has been classified as Green List (High Evidence).

28 Nov 2018, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PHEX were set to

16 Nov 2018, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PHEX was added gene: PHEX was added to Hypophosphataemia or rickets. Sources: Expert list,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen 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) Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant (307800)