Hypogonadotropic hypogonadism
Gene: GNRHR

GNRHR (gonadotropin releasing hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000109163
EnsemblGeneIds (GRCh37): ENSG00000109163
OMIM: 138850, Gene2Phenotype
GNRHR is in 3 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 3/4 sources. At least 14 variants reported. One expert reviewer recommends Green
Created: 13 Oct 2016, 8:14 a.m.

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
OMIM

Phenotypes

Hypogonadotropic hypogonadism 7 without anosmia, 146110
Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel
Isolated GnRH Deficiency

OMIM

138850

Clinvar variants

Variants in GNRHR

Penetrance

Complete

Publications

9425890

Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.

7 Jun 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for GNRHR were set to 9425890

26 May 2016, Gel status: 4