Hypogonadotropic hypogonadism
Gene: LHCGRComment on list classification: Four sources are linked to a related but incorrect phenotypeCreated: 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 phenotypeCreated: 26 May 2016, 8:09 a.m.
I think LHCGR is inappropriate as it leads to Leydig cell hypoplasia an end-organ problem rather than gonadotrophin deficiencyCreated: 24 May 2016, 12:18 p.m.
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for gene LHCGR were set to 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
LHCGR was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Illumina TruGenome Clinical Sequencing Services
LHCGR was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
LHCGR was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory
LHCGR was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: UKGTN
LHCGR was created by sleigh