GPC4

glypican 4
OMIM: 300168, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber GPC4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.5
Latest signed off version: v8.0 (12 Aug 2026)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Keipert syndrome, OMIM:301026
Red GPC4 in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 7.1
Latest signed off version: v7.0 (12 Aug 2026)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
Green GPC4 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • KEIPERT SYNDROME 301026
    Green GPC4 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Keipert syndrome OMIM# 301026
    Tags
    • Skewed X-inactivation