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Hypophosphataemia or rickets v0.34 | FGF23 | Ivone Leong commented on gene: FGF23: 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 | FGF23 | Martina Owens reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Hypophosphatemia, rickets; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypophosphataemia or rickets v0.9 | FGF23 | Ivone Leong commented on gene: FGF23: FGF23 is a green gene on the Skeletal dysplasia panel (Version 1.129). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypophosphataemia or rickets v0.5 | FGF23 | Ivone Leong Marked gene: FGF23 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypophosphataemia or rickets v0.5 | FGF23 | Ivone Leong Added comment: Comment when marking as ready: Autosomal dominant hypophosphataemic rickets (ADHR) is confirmed to be associated with FGF23 on OMIM but not Gene2Phenotype. It is a green gene on the Skeletal hyperplasia panel. There is one family reported with a variant in FGF23 diagnosed with ADHR (PMID: 28383812). Another study reported two different variants in FgF23 in two unrelated families diagnosed with ADHR (PMID:11062477). Mouse model with conditional deletion of FGF23 (PMID: 26792657) further supports that variants in FGF23 cause ADHR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypophosphataemia or rickets v0.5 | FGF23 | Ivone Leong Gene: fgf23 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypophosphataemia or rickets v0.5 | FGF23 | Ivone Leong Publications for gene: FGF23 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypophosphataemia or rickets v0.3 | FGF23 | Sian Ellard reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062477; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypophosphataemia or rickets v0.1 | FGF23 |
Ivone Leong gene: FGF23 was added gene: FGF23 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: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF23 were set to Hypophosphatemic rickets, autosomal dominant (193100) |