PLEKHA6

pleckstrin homology domain containing A6
OMIM: 607771, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PLEKHA6 in Mendeliome


Version 2.588

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • idiopathic hypogonadotropic hypogonadism MONDO:0018555

Red PLEKHA6 in Infertility and Recurrent Pregnancy Loss


Version 2.48

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • idiopathic hypogonadotropic hypogonadism MONDO:0018555

Red PLEKHA6 in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.18

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • idiopathic hypogonadotropic hypogonadism MONDO:0018555