FSHR

follicle stimulating hormone receptor
OMIM: 136435, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FSHR in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ovarian dysgenesis 1 MONDO:0024463
  • Ovarian hyperstimulation syndrome MONDO:0011972

Green FSHR in Mendeliome


Version 1.2374

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ovarian dysgenesis 1 MONDO:0024463
  • Ovarian hyperstimulation syndrome MONDO:0011972

Green FSHR in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.340

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ovarian dysgenesis 1 233300
  • Ovarian response to FSH stimulation 276400