Differences in sex development
Gene: LHCGREnsemblGeneIds (GRCh38): ENSG00000138039
EnsemblGeneIds (GRCh37): ENSG00000138039
OMIM: 152790, Gene2Phenotype
LHCGR is in 2 panels
3 reviews
Ivone Leong (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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.
John Achermann (UCL Institute of Child Health)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Gender Assignment Gene Panel (UKGTN)
- Endocrine disorders including disorders of sexual development (Emory)
- Leydic cell hypoplasia type 1, 238320
- Precocious puberty, male, 176410
- OMIM
- 152790
- Clinvar variants
- Variants in LHCGR
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for LHCGR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set Phenotypes
Sarah Leigh (Genomics England Curator)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)
Added New Source
Sarah Leigh (Genomics England Curator)LHCGR was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)LHCGR was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)LHCGR was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)LHCGR was added to Disorders of sex developmentpanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)LHCGR was created by ellenmcdonagh