FSHR:Ensemblv90

follicle stimulating hormone receptor
OMIM: 136435, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FSHR in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 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 1.3802

2 reviews 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 0.391

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Ovarian dysgenesis 1 MONDO:0024463

Green FSHR in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
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 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Ovarian dysgenesis 1 MONDO:0024463