Skeletal dysplasia
Gene: FGF23
Abnormal mineralization gp of SD - at least 3 cases reported. Variants also associated with ;Osteomalacia, tumor-induced and tumoral calcinosis, hyperphosphatemic, familial, 2 - 617993.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypophosphatemic rickets, autosomal dominant 193100
Comment on mode of inheritance: Updated mode of inheritance so in agreement with Tracy Lester's recommendation and OMIMCreated: 8 May 2019, 2:07 p.m.
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: FGF23; 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, 9:35 a.m.
Comment when marking as ready: At least two variants reported in Hypophosphatemic rickets, autosomal dominant 193100 and at least three in Osteomalacia, tumor-induced.Created: 12 Jul 2016, 7:03 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:20 p.m.
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial 211900; Hypophosphatemic rickets, autosomal dominant 193100; Osteomalacia, tumor-induced
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: FGF23 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypophosphatemic rickets, autosomal dominant 193100 for gene: FGF23
Source NHS GMS was added to FGF23. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for FGF23 were set to Tumoral calcinosis, hyperphosphatemic, familial 211900; Hypophosphatemic rickets, autosomal dominant 193100; Osteomalacia, tumor-induced
FGF23 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for FGF23 were set to Tumoral calcinosis, hyperphosphatemic, familial 211900; Hypophosphatemic rickets, autosomal dominant 193100; Osteomalacia, tumor-induced
Mode of inheritance for FGF23 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FGF23 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory FGF23 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
FGF23 was created by sleigh
FGF23 was added to Unexplained skeletal dysplasiapanel. Sources: