Hypogonadotropic hypogonadism
Gene: LHCGR

LHCGR (luteinizing hormone/choriogonadotropin receptor)
EnsemblGeneIds (GRCh38): ENSG00000138039
EnsemblGeneIds (GRCh37): ENSG00000138039
OMIM: 152790, Gene2Phenotype
LHCGR is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Four sources are linked to a related but incorrect phenotype
Created: 26 May 2016, 8:09 a.m.

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 4/4 sources. One reviewer recommends Red because the association is with a related, but incorrect phenotype
Created: 26 May 2016, 8:09 a.m.

Created: 26 May 2016, 8:09 a.m.

Panel version: 0.7

Mehul Dattani (UCL Institute of Child Health)

Red List (low evidence)

I think LHCGR is inappropriate as it leads to Leydig cell hypoplasia an end-organ problem rather than gonadotrophin deficiency
Created: 24 May 2016, 12:18 p.m.

Created: 24 May 2016, 12:18 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Leydig cell hypoplasia with hypergonadotropic hypogonadism, Leydig cell hypoplasia with pseudohermaphroditism, Luteinizing hormone resistance,female, 238320
Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel
Leydig cell adenoma,somatic,with precocious puberty,176410

OMIM

152790

Clinvar variants

Variants in LHCGR

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 1

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.

26 May 2016, Gel status: 1