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Mendeliome

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

Ain Roesley (Victorian Clinical Genetics Services)

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.

Book chapter:
Huhtaniemi (2018) Encyclopedia of Reproduction (Second Edition); Volume 1, 2018, Pages 195-203
Created: 31 May 2021, 11:28 p.m. | Last Modified: 31 May 2021, 11:28 p.m.
Panel Version: 0.7735

Mode of inheritance
BOTH monoallelic and 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); Precocious puberty, male, (MIM#176410)

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Luteinizing hormone resistance, female, (MIM#238320)
  • Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320)
  • Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320)
  • Precocious puberty, male, (MIM#176410)
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); Precocious puberty, male, (MIM#176410)

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 Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LHCGR was added gene: LHCGR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LHCGR was set to Unknown