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  3. FGF23
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Hypophosphataemia or rickets

Gene: FGF23

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

3 reviews

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Variants in FGF23 result in the stabilization of the full-length active form of the protein leading to prolonged or enhanced FGF23 action.
Created: 28 Jan 2019, 10:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypophosphatemia; rickets

Mode of pathogenicity
Other

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

Created: 28 Jan 2019, 10:26 a.m.

Panel version: 0.31

Ivone Leong (Genomics England Curator)

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.
Created: 29 Jan 2019, 11:44 a.m.
FGF23 is a green gene on the Skeletal dysplasia panel (Version 1.129).
Created: 30 Nov 2018, 3 p.m.
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.
Created: 28 Nov 2018, 2 p.m.
Created: 28 Nov 2018, 2 p.m.

Panel version: 0.34

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

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

Created: 24 Nov 2018, 3:22 p.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
Phenotypes
  • Hypophosphatemic rickets, autosomal dominant (193100)
OMIM
605380
Clinvar variants
Variants in FGF23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment when marking as ready:

28 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fgf23 has been classified as Green List (High Evidence).

28 Nov 2018, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FGF23 were set to

16 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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)