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  3. CTGF
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Skeletal Dysplasia_Fetal

Gene: CTGF

Amber List (moderate evidence)
CTGF (connective tissue growth factor)
EnsemblGeneIds (GRCh38): ENSG00000118523
EnsemblGeneIds (GRCh37): ENSG00000118523
OMIM: 121009, Gene2Phenotype
CTGF is in 3 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

CCN2 is the new HGNC approved name.

PMID: 39506047
Three individuals from two unrelated consanguineous families presented with short stature, facial dysmorphism and kyphomelic skeletal dysplasia.

A rare missense variant in family 1 (Cys148Tyr) and novel frameshift variant (Pro260LeufsTer7) in family 2 was identified in homozygous state.
Zebrafish model was also conducted that showed altered body curvature and impaired cartilage formation in craniofacial region resulting in either bent or missing tails.

A missense variant c.443G>A; p.(Cys148Tyr) in exon 3 and a frameshift variant, c.779_786del; p.(Pro260LeufsTer7) in exon 5.
Sources: Literature
Created: 5 Dec 2024, 11:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kyphomelic dysplasia

Publications

Created: 5 Dec 2024, 11:12 p.m.

Panel version: 0.223

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Kyphomelic dysplasia MONDO:0008881
OMIM
121009
Clinvar variants
Variants in CTGF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

7 Dec 2024, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: CTGF were changed from Kyphomelic dysplasia to Kyphomelic dysplasia MONDO:0008881

7 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Dec 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: CTGF was added gene: CTGF was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTGF were set to 39506047 Phenotypes for gene: CTGF were set to Kyphomelic dysplasia Review for gene: CTGF was set to AMBER