CCDC141

coiled-coil domain containing 141
OMIM: 616031, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber CCDC141 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.41

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Normosmic IHH (no OMIM)
Amber CCDC141 in Hypogonadotropic hypogonadism (GMS)


Version 3.18
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Anosmic hypogonadotropic hypogonadism
  • congenital hypogonadotropic hypogonadism, MONDO:0015770