POF1B

POF1B, actin binding protein
OMIM: 300603, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber POF1B in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.68

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • premature ovarian failure
  • Premature ovarian failure 2B,300604
  • Premature Ovarian Failure 2B