CTGF

connective tissue growth factor
OMIM: 121009, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CTGF in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.225

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

Amber CTGF in Mendeliome


Version 1.2302

2 reviews 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 0.302

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