CCDC134

coiled-coil domain containing 134
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CCDC134 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteogenesis imperfecta, type XXII, MIM#619795

Green CCDC134 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders
Version 0.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteogenesis imperfecta, type XXII, MIM#619795

Green CCDC134 in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XXII, MIM#619795