Newborns additional phenotypes panel 1
Gene: FGF23EnsemblGeneIds (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, 12:46 p.m. | Last Modified: 19 Nov 2025, 12:48 p.m.
Panel Version: 0.102
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is gain-of-function (GOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature - PubMed (nih.gov)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypophosphatemic rickets, autosomal dominant
- Tags
- OMIM
- 605380
- Clinvar variants
- Variants in FGF23
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration tag was added to gene: FGF23.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Hypophosphatemic rickets, autosomal dominant for gene: FGF23
Set mode of inheritance
Mafalda Gomes (Genomics England Curator)Mode of inheritance for gene: FGF23 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to FGF23. Mode of inheritance for gene FGF23 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hypophosphatemic rickets, autosomal dominant for gene: FGF23 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Mafalda Gomes (Genomics England Curator)Tag GOF was removed from gene: FGF23.
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to FGF23. Added phenotypes Hypophosphatemic rickets, autosomal dominant for gene: FGF23 Rating Changed from No List (delete) to Amber List (moderate evidence)
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)
Added Tag
Mafalda Gomes (Genomics England Curator)Tag GOF tag was added to gene: FGF23.
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)gene: FGF23 was added gene: FGF23 was added to Newborns additional phenotypes panel. Sources: Expert Review Amber 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 Mode of pathogenicity for gene: FGF23 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments