GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FGF23

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypophosphatemic rickets, autosomal dominant 193100

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
NHS GMS

Phenotypes

Metacarpal 4-5 fusion 309630

OMIM

605380

Clinvar variants

Variants in FGF23

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: FGF23 was added gene: FGF23 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FGF23 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FGF23 were set to Metacarpal 4-5 fusion 309630

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: FGF23