AMH

anti-Mullerian hormone
OMIM: 600957, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green AMH in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Persistent Mullerian duct syndrome, type I (MIM#261550)
Tags
  • founder

Green AMH in Mendeliome


Version 1.4851

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Persistent Mullerian duct syndrome, type I (MIM#261550)
  • Hypogonadotropic hypogonadism, MONDO:0018555
Tags
  • founder

Amber AMH in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.414

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Primary ovarian insuffiency

Amber AMH in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.226

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0018555

Green AMH in Infertility and Recurrent Pregnancy Loss


Version 1.156

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Persistent Mullerian duct syndrome, type I, MIM# 261550

Amber AMH in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.137

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0018555