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| Hypophosphataemia or rickets v0.34 | PHEX | Ivone Leong commented on gene: PHEX: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.31 | PHEX | Martina Owens reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: 19219621, 7550339; Phenotypes: Hypophosphatemia, rickets; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.9 | PHEX | Ivone Leong commented on gene: PHEX: PHEX is a green gene on the Skeletal dysplasia panel (Version 1.129). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.4 | PHEX | Ivone Leong Marked gene: PHEX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.4 | PHEX | Ivone Leong Added comment: Comment when marking as ready: OMIM has confirmed that PHEX is associated with hypophosphataemic rickets; however, no phenotype is listed wih PHEX on Gene2Phenotype. There are many publications linking varaints in PHEX as the cause for hypophosphataemic rickets. Also, based on the review by Sian Ellard (University of Exeter Medical School). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.4 | PHEX | Ivone Leong Gene: phex has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.4 | PHEX | Ivone Leong Publications for gene: PHEX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.3 | PHEX | Sian Ellard reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550339, 9106524, 19219621; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.1 | PHEX |
Ivone Leong 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) |
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