Skeletal dysplasia
Gene: FGF8

FGF8 (fibroblast growth factor 8)
EnsemblGeneIds (GRCh38): ENSG00000107831
EnsemblGeneIds (GRCh37): ENSG00000107831
OMIM: 600483, Gene2Phenotype
FGF8 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM nor G2P. In vitro studies suggest involvement of FGF8 in limb development
Created: 28 Jul 2016, 11:51 a.m.

Created: 28 Jul 2016, 11:51 a.m.

Panel version: 0.876

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
Unknown

Phenotypes
Hypogonadotropic hypogonadism 6 with or without anosmia 612702; Restelli M, et al. DLX5, FGF8 and the Pin1 isomerase control ?Np63? protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations. Hum Mol Genet. 2014 Jul 15, 23(14):3830-42. Among FGF8's related pathways are PI3K-Akt signaling pathway

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

Created: 17 Jun 2016, 8:04 a.m.

Panel version: 0.4

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red

Phenotypes

Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel.

OMIM

600483

Clinvar variants

Variants in FGF8

Penetrance

Complete

Publications

24569166

Panels with this gene