Hypogonadotropic hypogonadism
Gene: TAC3

TAC3 (tachykinin 3)
EnsemblGeneIds (GRCh38): ENSG00000166863
EnsemblGeneIds (GRCh37): ENSG00000166863
OMIM: 162330, Gene2Phenotype
TAC3 is in 4 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 2/4 sources. Two variants reported, each in a family from different populations (Turkish and Asian). Segregation and in vitro studies support involvement in phenotype, plus no variants found in 100 Turkish controls. Three expert reviewers recommend Green
Created: 13 Oct 2016, 2:28 p.m.

Created: 26 May 2016, 11:36 a.m.

Panel version: 0.29

Richard Quinton (Newcastle University)

Green List (high evidence)

Created: 24 May 2016, 12:59 p.m.

Panel version: 0.2

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Created: 24 May 2016, 12:18 p.m.

Panel version: 0.2

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Created: 21 May 2016, 1:20 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
OMIM

Phenotypes

Hypogonadotropic hypogonadism 10 with or without anosmia 614839
Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel

OMIM

162330

Clinvar variants

Variants in TAC3

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

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.

13 Oct 2016, Gel status: 4