GPC3

glypican 3
OMIM: 300037, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Red GPC3 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

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 0.138

    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 1.14

    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 Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.418

    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

    Green GPC3 in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.140

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

    Green GPC3 in Mendeliome


    Version 1.1891

    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 1.12

    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 0.276

    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 0.522

    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 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green GPC3 in Wilms Tumour Predisposition


    Level 2: Cancer predisposition
    Version 0.39

    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

    Red GPC3 in CGC_86


    Version 0.2

    review Other
    Sources
    • CGC_86
    Phenotypes
    • Simpson-Golabi-Behmel syndrome

    Red GPC3 in NCGC


    Version 0.2

    review Other
    Sources
    • NCGC
    Phenotypes
    • Simpson-Golabi-Behmel syndrome

    Red GPC3 in TCGA_PANCAN_2018


    Version 0.2

    review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Simpson-Golabi-Behmel syndrome

    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 0.252

    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 1.255

    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 1.9

    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 1.113

    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 1.1

    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)