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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. GNRHR
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: GNRHR

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

2 reviews

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: Imported from Disorders of Sex Differentiation panel version 0.11

Kristin Rigbye (Victorian Clinical Genetics Services)

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: 4 Mar 2020, 11:41 p.m. | Last Modified: 4 Mar 2020, 11:41 p.m.
Panel Version: 0.1627

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 7 without anosmia, 146110

Publications

Created: 4 Mar 2020, 11:41 p.m.
Last Modified: 4 Mar 2020, 11:41 p.m.
Panel version: Imported from Mendeliome panel version 0.1627

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 7 without anosmia 146110
OMIM
138850
Clinvar variants
Variants in GNRHR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gnrhr has been classified as Green List (High Evidence).

9 Jul 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GNRHR were set to

24 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GNRHR was added gene: GNRHR was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia 146110