Disorders of sex development
Gene: LHCGR
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Twelve variants reported in phenotype MIM 176410, fourteen variants reported in phenotype MIM 238320Created: 12 Sep 2016, 9:33 a.m.
Comment on mode of inheritance: Phenotype MIM 176410 is monogenic, phenotype MIM 238320 in biallelicCreated: 12 Sep 2016, 9:30 a.m.
Variable underandrogenization of 46,XY child, rare. Isolated testicular sterodiogenesis defect.Created: 4 Feb 2016, 12:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for LHCGR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for LHCGR were set to Gender Assignment Gene Panel (UKGTN); Endocrine disorders including disorders of sexual development (Emory); Leydic cell hypoplasia type 1, 238320; Precocious puberty, male, 176410
Phenotypes for gene LHCGR were set to Gender Assignment Gene Panel (UKGTN); Leydic cell hypoplasia type 1, 238320; Precocious puberty, male, 176410; Endocrine disorders including disorders of sexual development (Emory)
LHCGR was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
LHCGR was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
LHCGR was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
Model of inheritance for gene LHCGR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
LHCGR was added to Disorders of sex developmentpanel. Sources: UKGTN
LHCGR was created by ellenmcdonagh