CTGF

connective tissue growth factor
OMIM: 121009, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CTGF in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Kyphomelic dysplasia MONDO:0008881

Amber CTGF in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Kyphomelic dysplasia MONDO:0008881
  • Spondyloepimetaphyseal dysplasia MONDO:0100510

Amber CTGF in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Kyphomelic dysplasia MONDO:0008881
  • Spondyloepimetaphyseal dysplasia MONDO:0100510