Hypogonadotropic hypogonadism
Gene: FLRT3EnsemblGeneIds (GRCh38): ENSG00000125848
EnsemblGeneIds (GRCh37): ENSG00000125848
OMIM: 604808, Gene2Phenotype
FLRT3 is in 2 panels
5 reviews
Richard Scott (Genomics England Curator)
Insufficient evidence to report in diagnostic context as monogenic currently.Created: 7 Jun 2016, 1:02 p.m.
Publications
Sarah Leigh (Genomics England Curator)
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.
Richard Quinton (Newcastle University)
Mehul Dattani (UCL Institute of Child Health)
Louise IZATT (GSTT Clinical Genetics Service)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- OMIM
- Phenotypes
-
- Hypogonadotropic hypogonadism 21 with anosmia, 615271
- OMIM
- 604808
- Clinvar variants
- Variants in FLRT3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FLRT3 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for FLRT3 were set to 23643382; 21700882
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FLRT3 was changed to Other - please specifiy in evaluation comments
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia, 615271
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia, 615271
Added New Source
Sarah Leigh (Genomics England Curator)FLRT3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)FLRT3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
Created
Sarah Leigh (Genomics England Curator)FLRT3 was created by sleigh