Skeletal dysplasia
Gene: PHEX
Abnormal mineralization gp of SD - many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 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 307800
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PHEX; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:50 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 10:42 a.m.
Tier 1Created: 17 Jun 2016, 8:06 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 307800
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Hypophosphatemic rickets, X-linked dominant 307800 for gene: PHEX
Source NHS GMS was added to PHEX. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for PHEX was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance for PHEX was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for PHEX were set to Hypophosphatemic rickets, X-linked dominant 307800
Mode of inheritance for PHEX was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
PHEX was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
PHEX was added to Unexplained skeletal dysplasiapanel. Source: Expert PHEX was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory PHEX was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
PHEX was added to Unexplained skeletal dysplasiapanel. Sources:
PHEX was created by sleigh