Hypogonadotropic hypogonadism

Gene: GNRH1

Green List (high evidence)

GNRH1 (gonadotropin releasing hormone 1)
EnsemblGeneIds (GRCh38): ENSG00000147437
EnsemblGeneIds (GRCh37): ENSG00000147437
OMIM: 152760, Gene2Phenotype
GNRH1 is in 2 panels

3 reviews

Richard Quinton (Newcastle University)

Green List (high evidence)

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 variants reported. Two expert reviewers recommend Green
Created: 13 Oct 2016, 8:13 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 12 with or without anosmia 614841
  • Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel
  • Isolated GnRH Deficiency
OMIM
152760
Clinvar variants
Variants in GNRH1
Penetrance
Complete
Publications
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.

13 Oct 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GNRH1 were set to 26595427; 23936060; 22724017

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

GNRH1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Illumina TruGenome Clinical Sequencing Services

17 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

GNRH1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen

17 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GNRH1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory

17 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GNRH1 was created by sleigh

17 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GNRH1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM