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Clefting

Gene: CTGF

Amber List (moderate evidence)
CTGF (connective tissue growth factor)
EnsemblGeneIds (GRCh38): ENSG00000118523
EnsemblGeneIds (GRCh37): ENSG00000118523
OMIM: 121009, Gene2Phenotype
CTGF is in 4 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 2 unrelated cases supported by a recapitulated phenotype in an animal model.
Created: 22 Sep 2025, 4:07 p.m. | Last Modified: 22 Sep 2025, 4:07 p.m.
Panel Version: 6.11
PMID: 39506047 (2025) reported three individuals from two unrelated families with different homozygous CCN2 variants and kyphomelic dysplasia - all had cleft palate or bifid uvula as part of their phenotype. Ccn2-deficient mice also show skeletal dysmorphisms as well as secondary cleft palate, supporting this association.

Individuals with monoallelic variants in this gene do not exhibit dysmorphic facial phenotypes such as cleft palate (PMID: 39414788).
Sources: Literature
Created: 22 Sep 2025, 4:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kyphomelic dysplasia, OMIM:211350; kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510

Publications

Created: 22 Sep 2025, 4:05 p.m.

Panel version: 6.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Kyphomelic dysplasia, OMIM:211350
  • kyphomelic dysplasia, MONDO:0008881
  • spondyloepimetaphyseal dysplasia, MONDO:0100510
Tags
new-gene-name Q3_25_promote_green
OMIM
121009
Clinvar variants
Variants in CTGF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ctgf has been classified as Amber List (Moderate Evidence).

22 Sep 2025, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: CTGF was added gene: CTGF was added to Clefting. Sources: Literature new-gene-name, Q3_25_promote_green tags were added to gene: CTGF. Mode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTGF were set to 39506047; 39414788; 12736220 Phenotypes for gene: CTGF were set to Kyphomelic dysplasia, OMIM:211350; kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 Review for gene: CTGF was set to GREEN