CCDC141

coiled-coil domain containing 141
OMIM: 616031, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CCDC141 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related

Amber CCDC141 in Mendeliome


Version 1.1902

review Unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Anosmic hypogonadotropic hypogonadism

Amber CCDC141 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.328

review Unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Anosmic hypogonadotropic hypogonadism