Differences of Sex Development
Gene: KISS1R

KISS1R (KISS1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000116014
EnsemblGeneIds (GRCh37): ENSG00000116014
OMIM: 604161, Gene2Phenotype
KISS1R is in 5 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>3 families reported with biallelic variants.

PMID: 17164310: Same variant reported in 5 patients with isolated hypogonadotropic hypogonadism

PMID: 31073722: 1 familiy with congenital hypogonadotropic hypogonadism (CHH).

PMID: 14573733: 2 patients with idiopathic hypogonadotropic hypogonadism. Variants not present in homozygosity
Created: 15 Jul 2020, 6:31 a.m. | Last Modified: 15 Jul 2020, 6:31 a.m.

Panel Version: 0.92

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)

Publications

Created: 15 Jul 2020, 6:31 a.m.
Last Modified: 15 Jul 2020, 6:31 a.m.
Panel version: 0.92

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)

OMIM

604161

Clinvar variants

Variants in KISS1R

Penetrance

None

Publications

Panels with this gene