Skeletal dysplasiaGene: FGF8
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: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
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
Promoted to version 1 9th August 2016
Phenotypes for FGF8 were set to Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel.
This gene has been classified as Red List (Low Evidence).
Publications for FGF8 were set to 24569166
Mode of inheritance for FGF8 was changed to Unknown
FGF8 was created by sleigh
FGF8 was added to Unexplained skeletal dysplasiapanel. Sources: