FSHB

follicle stimulating hormone beta subunit
OMIM: 136530, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green FSHB in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070

Green FSHB in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 24 without anosmia MONDO:0009239

Green FSHB 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
  • Hypogonadotropic hypogonadism 24 without anosmia, MIM# 229070

Green FSHB in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070

Green FSHB in Infertility and Recurrent Pregnancy Loss


Version 1.56

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 24 without anosmia, MIM# 229070

Green FSHB in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.74

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070