Differences of Sex Development
Gene: TAC3

TAC3 (tachykinin 3)
EnsemblGeneIds (GRCh38): ENSG00000166863
EnsemblGeneIds (GRCh37): ENSG00000166863
OMIM: 162330, Gene2Phenotype
TAC3 is in 5 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene also referred to as NKB. At least 4 families reported with some supporting functional studies.

PMID: 19079066: Reported a homozygous variant in Turkish family with hypogonadotropic hypogonadism, including supporting functional studies.

PMID: 20332248: Homozygous frameshift reported in an Asian family.

PMID: 23329188: Reported a variant in a girl with central precocious puberty (CPP)

PMID: 22031817: 1 patient with CHH

Green in GEL Hypogonadotropic hypogonadism
Created: 13 Jul 2020, 1:42 a.m. | Last Modified: 13 Jul 2020, 1:42 a.m.

Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839)

Publications

Created: 13 Jul 2020, 1:42 a.m.
Last Modified: 13 Jul 2020, 1:42 a.m.
Panel version: 0.42

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839)

OMIM

162330

Clinvar variants

Variants in TAC3

Penetrance

None

Publications

Panels with this gene