Hypogonadotropic hypogonadism

Gene: TAC3

Green List (high evidence)

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.

Richard Quinton (Newcastle University)

Green List (high evidence)

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

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

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TAC3 were set to 19079066; 20332248

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

TAC3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen

17 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TAC3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory

17 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TAC3 was created by sleigh

17 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TAC3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM