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Osteogenesis imperfecta

Gene: FGF23

Red List (low evidence)

FGF23 (fibroblast growth factor 23)
EnsemblGeneIds (GRCh38): ENSG00000118972
EnsemblGeneIds (GRCh37): ENSG00000118972
OMIM: 605380, Gene2Phenotype
FGF23 is in 9 panels

4 reviews

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

hypophosphatemic rickets


Variants in this GENE are reported as part of current diagnostic practice

Chris Boustred (Genomics England)

Comment when marking as ready: Keep as red as due to phenotype mismatch
Created: 10 May 2016, 12:53 p.m.

Christine Burren (University Hospitals Bristol NHS Foundation Trust)

Red List (low evidence)

This gene is associated with Hypophosphataemic Rickets as opposed to the Osteogenesis Imperfecta phenotype.
Created: 14 Dec 2015, 10:20 a.m.

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Hereditary hypophosphataemic rickets
Created: 27 Nov 2015, 3:03 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FGF23 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory