Hypogonadotropic hypogonadism
Gene: FLRT3
Insufficient evidence to report in diagnostic context as monogenic currently.Created: 7 Jun 2016, 1:02 p.m.
Publications
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 1/4 sources. Three reviewers recommend Green. Four variants reported, one in homozygous patient, the remaining three with variants in FGFR1 (two cases) and FGFR1, FGF17 & HS6ST1 (one case)(PMID 23643382)Created: 12 Oct 2016, 2:04 p.m.
Comment on mode of inheritance: Reported as a homozygote or as polygenicCreated: 12 Oct 2016, 1:58 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.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for FLRT3 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for FLRT3 were set to 23643382; 21700882
Mode of inheritance for FLRT3 was changed to Other - please specifiy in evaluation comments
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for gene FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia, 615271
Phenotypes for gene FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia, 615271
FLRT3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
FLRT3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
FLRT3 was created by sleigh