GPC3

glypican 3
OMIM: 300037, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Red GPC3 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870

    Green GPC3 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


    Level 2: Renal and urinary tract disorders
    Version 0.145

    Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GPC3 in Congenital diaphragmatic hernia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.16

    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, MIM# 312870

    Green GPC3 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.430

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber GPC3 in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.68

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1 MIM#312870

    Red GPC3 in Hyperinsulinism


    Level 2: Endocrine disorders
    Version 1.30

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1 MIM#312870

    Green GPC3 in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.149

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GPC3 in Mendeliome


    Version 1.2374

    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, MIM# 312870

    Green GPC3 in Overgrowth


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.14

    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, MIM# 312870

    Green GPC3 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

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

    Green GPC3 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.281

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GPC3 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GPC3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    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
    • Genetic Health Queensland
    Phenotypes
    • Simpson-Golabi-Behmel syndrome MONDO:0010731

    Green GPC3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)

    Green GPC3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Simpson-Golabi-Behmel syndrome

    Green GPC3 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    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 Fetal anomalies


    Version 1.314

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870

    Green GPC3 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)

    Red GPC3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870

    Green GPC3 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)

    Green GPC3 in Wilms Tumour


    Level 2: Cancer Predisposition
    Version 1.0

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Wilms tumor, MONDO:0006058
    • Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602
    • Simpson-Golabi-Behmel syndrome, type 1, MIM#312870