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Newborns main panel

Gene: TACR3

Green List (high evidence)

TACR3 (tachykinin receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000169836
EnsemblGeneIds (GRCh37): ENSG00000169836
OMIM: 162332, Gene2Phenotype
TACR3 is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 20332248 - 19 cases
Created: 31 Dec 2025, 2:28 p.m. | Last Modified: 31 Dec 2025, 2:28 p.m.
Panel Version: 0.498

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 11 with or without anosmia
OMIM
162332
Clinvar variants
Variants in TACR3
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: TACR3 was added gene: TACR3 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACR3 were set to Hypogonadotropic hypogonadism 11 with or without anosmia