GPC3

glypican 3
OMIM: 300037, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green GPC3 in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wilms tumor, somatic, 194070
  • Simpson-Golabi-Behmel syndrome, type 1, 312870
  • Wilms tumor, somatic, 194070
Green GPC3 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1 312870
    • Polydactyly
    Green GPC3 in Congenital hyperinsulinism


    Level 2: Endocrinology
    Version 3.7
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • neonatal hypoglycaemia
    • distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies
    • supernumerary nipples
    • X-linked recessive hypoglycaemia as part of Simpson-Golabi-Behmel syndrome (312870)
    Tags
    • to_be_confirmed_NHSE
    Amber GPC3 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.30

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    Phenotypes
    • Wilms tumor, somatic, 194070
    • Simpson-Golabi-Behmel syndrome, type 1, 312870
    Green GPC3 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

    Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
    Level 2: Growth disorders
    Version 1.121

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement exclusion criteria
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Simpson-Golabi-Behmel syndrome type 1
    • Simpson-Golabi-Behmel syndrome, type 1, 312870
    Green GPC3 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.181

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1 312870
    Green GPC3 in Fetal anomalies


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

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
    Amber GPC3 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1, OMIM:312870
    Green GPC3 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 312870
    Green GPC3 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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
    • SGBS1
    Green GPC3 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1, 312870Wilms tumor, somatic, 194070
    • SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1