Differences of Sex Development
Gene: GNRHR

GNRHR (gonadotropin releasing hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000109163
EnsemblGeneIds (GRCh37): ENSG00000109163
OMIM: 138850, Gene2Phenotype
GNRHR is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Loss of function and dominant negative mechanisms described for missense variants (OMIM). Also, 1 consanguineous family with 3 sisters affected with polycystic ovary syndrome reported (PMID: 28348023).
Created: 5 Mar 2020, 3:21 a.m. | Last Modified: 5 Mar 2020, 3:21 a.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110

Publications

Created: 5 Mar 2020, 3:21 a.m.
Last Modified: 5 Mar 2020, 3:21 a.m.
Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110

OMIM

138850

Clinvar variants

Variants in GNRHR

Penetrance

None

Publications

Panels with this gene