CCDC134

coiled-coil domain containing 134
ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CCDC134 in Mendeliome


Version 1.4865

1 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; Endocrine disorders
Version 1.18

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

Green CCDC134 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.449

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

Green CCDC134 in Transplant Co-Morbidity


Level 2: Screening
Version 0.21

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