CCN2

cellular communication network factor 2
OMIM: 121009, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber CCN2 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

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

Amber CCN2 in Mendeliome


Version 2.0

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

Green CCN2 in Immune_markers_WTS_UMCCR


Level 2: Cancer
Version 1.0

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

Amber CCN2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

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

Amber CCN2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

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 CCN2 in Fetal anomalies


Version 2.0

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