Hypophosphataemia or rickets
Gene: PHEX
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
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.
Pathogenic PHEX variants are the most common cause of hypophosphataemic ricketsCreated: 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
Sian Ellard: Pathogenic PHEX variants are t
Gene: phex has been classified as Green List (High Evidence).
Publications for gene: PHEX were set to
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)