Hypogonadotropic hypogonadism
Gene: FGF17Comment on list classification: Discussed as a group and decided not enough evidence at this timeCreated: 7 Jun 2016, 8:21 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 1/4 sources. No reviewers comments. Three variants identified in patients, two predicted to be LOF, one these found together with four variants in other relevant genes (PMID 23643382)Created: 1 Jun 2016, 1:19 p.m.
28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.
Phenotypes for FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia 615270
Publications for FGF17 were set to PMID: 23643382
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
FGF17 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Other,Radboud University Medical Center, Nijmegen
FGF17All sources for gene: FGF17 were removed
FGF17 was created by sleigh
FGF17 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM