POF1B:Ensemblv90

POF1B, actin binding protein
OMIM: 300603, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber POF1B in Mendeliome


Version 1.3802

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Premature ovarian failure 2B, MIM# 300604

Amber POF1B in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.391

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Genetic Health QLD
Phenotypes
  • Premature ovarian failure 2B, MIM# 300604

Amber POF1B in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Genetic Health QLD
  • Expert Review Amber
Phenotypes
  • Premature ovarian failure 2B, MIM# 300604