DIAPH2

diaphanous related formin 2
OMIM: 300108, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red DIAPH2 in Mendeliome


Version 1.1891

review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services

Red DIAPH2 in Primary Ovarian Insufficiency_Premature Ovarian Failure

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

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Premature ovarian failure 2A 300511
Tags
  • SV/CNV