CTGF

connective tissue growth factor
OMIM: 121009, Gene2Phenotype

4 panels

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


Level 2: Musculoskeletal
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Kyphomelic dysplasia, OMIM:211350
    • kyphomelic dysplasia, MONDO:0008881
    • spondyloepimetaphyseal dysplasia, MONDO:0100510
    Tags
    • new-gene-name
    • watchlist_moi
    Green CTGF in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    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
    Green CTGF in Clefting


    Level 2: Musculoskeletal
    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Kyphomelic dysplasia, OMIM:211350
    • kyphomelic dysplasia, MONDO:0008881
    • spondyloepimetaphyseal dysplasia, MONDO:0100510
    Tags
    • new-gene-name
    Red CTGF in Intellectual disability


    Level 2: Developmental disorders
    Version 10.2
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Unknown
    Sources
    • Other
    Tags
    • watchlist