CTGF

connective tissue growth factor
OMIM: 121009, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber CTGF in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.244

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

Amber CTGF in Mendeliome


Version 1.3802

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

Green CTGF in Immune_markers_WTS_UMCCR


Level 2: Cancer
Version 0.77

0 reviews Unknown
Sources
  • Expert list
  • Expert Review Green
Tags
  • umccr

Amber CTGF in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

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 0.293

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 1.482

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