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Newborns main panel

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple phenotypes with different MOIs included.

Additional Information: FGF23 related hypophosphatemic rickets with hypercalciuria (AD - GOF) and FGF23 related hyperphosphatemic tumoral calcinosis (AR - LOF) are included in the study.
Created: 26 Sep 2024, 12:45 p.m. | Last Modified: 19 Nov 2025, 12:47 p.m.
Panel Version: 0.480
Created: 26 Sep 2024, 12:45 p.m.
Last Modified: 19 Nov 2025, 12:47 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 2
Tags
special_consideration
OMIM
605380
Clinvar variants
Variants in FGF23
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: FGF23.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 2 for gene: FGF23

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to FGF23. Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 2 for gene: FGF23 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to FGF23. Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 2 for gene: FGF23 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to FGF23. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: FGF23 was added gene: FGF23 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: FGF23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGF23 were set to Tumoral calcinosis, hyperphosphatemic, familial, 2