PanelApp
  1. Genes and Genomic Entities
  2. LHCGR

LHCGR

luteinizing hormone/choriogonadotropin receptor
OMIM: 152790, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green LHCGR in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

1 review 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)

Green LHCGR in Mendeliome


Version 1.3512

1 review 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)

Green LHCGR in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.388

1 review 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)

Green LHCGR in Infertility and Recurrent Pregnancy Loss


Version 1.50

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Luteinizing hormone resistance, female/ Leydig cell hypoplasia with pseudohermaphroditism/ Leydig cell hypoplasia with hypergonadotropic hypogonadism, MIM# 238320