Hypogonadotropic hypogonadism
Gene: TACR3
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 2/4 sources. At least four homozygous variants reported. Two reviewers recommend GreenCreated: 13 Oct 2016, 2:31 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.
Publications for TACR3 were set to 20332248; 19079066
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for gene TACR3 were set to Hypogonadotropic hypogonadism 11 with or without anosmia, 614840; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); Isolated GnRH Deficiency
TACR3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Illumina TruGenome Clinical Sequencing Services
TACR3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
TACR3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory
TACR3 was created by sleigh
TACR3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM