Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: LHCGR

Green List (high evidence)

LHCGR (luteinizing hormone/choriogonadotropin receptor)
EnsemblGeneIds (GRCh38): ENSG00000138039
EnsemblGeneIds (GRCh37): ENSG00000138039
OMIM: 152790, Gene2Phenotype
LHCGR is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

1 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lhcgr has been classified as Green List (High Evidence).

1 Jun 2021, Gel status: 3

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)

1 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LHCGR were set to

1 Jun 2021, Gel status: 3

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

17 Jun 2020, Gel status: 3

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