CPEB1

cytoplasmic polyadenylation element binding protein 1
OMIM: 607342, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber CPEB1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency, MONDO:0005387, CPEB1-related
Tags
  • SV/CNV

Amber CPEB1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency, MONDO:0005387, CPEB1-related
Tags
  • SV/CNV