Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: LHCGREnsemblGeneIds (GRCh38): ENSG00000138039
EnsemblGeneIds (GRCh37): ENSG00000138039
OMIM: 152790, Gene2Phenotype
LHCGR is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Precocious puberty, male (MIM#176410) is associated with gain-of-function mutations, which are mostly located within the sixth transmembrane domain and C-terminal region of the third intracellular loop. Autosomal recessive conditions on the other hand, are due to loss-of-function mutations. Inactivating mutations can vary in clinical severity.Created: 1 Jun 2021, 1:20 a.m. | Last Modified: 1 Jun 2021, 1:20 a.m.
Panel Version: 0.191
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Luteinizing hormone resistance, female, (MIM#238320)
- Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320)
- Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320)
- OMIM
- 152790
- Clinvar variants
- Variants in LHCGR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lhcgr has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LHCGR were changed from to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LHCGR were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LHCGR was changed from to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: LHCGR was added gene: LHCGR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LHCGR was set to