GPC3

glypican 3
OMIM: 300037, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green GPC3 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.33
Latest signed off version: v2.5 (4 Mar 2020)

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


Version 2.79
Latest signed off version: v2.2 (13 Feb 2020)

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 3: Disorders of unusual phenotypes
    Level 2: Endocrine disorders
    Version 2.10
    Latest signed off version: v2.3 (25 Feb 2020)

    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
    • Q4_21_expert_review
    • Q4_21_phenotype

    Amber GPC3 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.20

    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 1.119

    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
    • Emory Genetics Laboratory
    • UKGTN
    • Eligibility statement exclusion criteria
    • Radboud University Medical Center, Nijmegen
    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 1.169

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    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

    Red GPC3 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Simpson-Golabi-Behmel syndrome

    Green GPC3 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.70
    Latest signed off version: v2.2 (4 Mar 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green GPC3 in Severe Paediatric Disorders


    Version 1.127

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1, 312870