CCDC134

coiled-coil domain containing 134
OMIM: 618788, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CCDC134 in Mendeliome


Version 2.76

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 2.0

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 1.2

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 1.0

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