1. Genes and Genomic Entities
  2. CTGF

CTGF

connective tissue growth factor
OMIM: 121009, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber CTGF in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review 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
    • watchlist_moi
    • Q1_25_ promote_green
    Green CTGF in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Kyphomelic dysplasia, OMIM:211350
    • kyphomelic dysplasia, MONDO:0008881
    • spondyloepimetaphyseal dysplasia, MONDO:0100510
    Tags
    • new-gene-name
    Amber CTGF in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review 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
    Red CTGF in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Unknown
    Sources
    • Other
    Tags
    • watchlist