DIAPH2

diaphanous related formin 2
OMIM: 300108, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red DIAPH2 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.67

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Premature ovarian failure 2A, OMIM:300511
Red DIAPH2 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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