CTGF

connective tissue growth factor
OMIM: 121009, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber CTGF in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.239

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

Amber CTGF in Mendeliome


Version 1.3512

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 0.346

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

Amber CTGF in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.278

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Kyphomelic dysplasia, OMIM:211350
  • kyphomelic dysplasia, MONDO:0008881
  • spondyloepimetaphyseal dysplasia, MONDO:0100510

Amber CTGF in Fetal anomalies


Version 1.465

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Kyphomelic dysplasia
Tags
  • new gene name