PanelApp (stage)
  1. Genes and Genomic Entities
  2. GLI3

GLI3

GLI family zinc finger 3
OMIM: 165240, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Green GLI3 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review Unknown
Sources
  • Expert Review Green
  • Expert list
  • Expert Review
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green GLI3 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
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GLI3 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.418

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Literature
    Phenotypes
    • Pallister-Hall syndrome, MIM# 146510
    • ASD, VSD, AVSD, aortic arch anomaly, PDA

    Green GLI3 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.54

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Greig cephalopolysyndactyly syndrome (MIM#175700)
    • Pallister-Hall syndrome (MIM#146510)

    Green GLI3 in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.68

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Metopic craniosynostosis
    • Greig cephalopolysyndactyly syndrome MIM#175700

    Red GLI3 in Holoprosencephaly and septo-optic dysplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pallister-Hall syndrome, MIM# 146510

    Green GLI3 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.123

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

    Amber GLI3 in Joubert syndrome and other neurological ciliopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Greig cephalopolysyndactyly syndrome (MIM#175700)
    • Pallister-Hall syndrome (MIM#146510)

    Green GLI3 in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.140

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

    Green GLI3 in Mendeliome


    Version 1.1891

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly, postaxial, types A1 and B, MIM#174200
    • Greig cephalopolysyndactyly syndrome MIM#175700
    • Polydactyly, preaxial, type IV MIM#174700
    • Pallister-Hall syndrome MIM#146510

    Amber GLI3 in Overgrowth


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.12

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

    Green GLI3 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.276

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Greig cephalopolysyndactyly syndrome, MIM# 175700
    • Pallister-Hall syndrome, MIM# 146510
    • Polydactyly, postaxial, types A1 and B, MIM# 174200
    • Polydactyly, preaxial, type IV, MIM# 174700

    Green GLI3 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy


    Level 2: Skeletal disorders
    Version 1.15

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Greig cephalopolysyndactyly syndrome, MIM# 175700
    • Polydactyly

    Green GLI3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Pallister-Hall syndrome, MIM# 146510

    Green GLI3 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

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

    Green GLI3 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 GLI3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Hypothalamic hamartomas, somatic} 241800
    • Polydactyly, postaxial, types A1 and B 174200
    • Greig cephalopolysyndactyly syndrome 175700
    • Pallister-Hall syndrome 146510
    • Polydactyly, preaxial, type IV 174700

    Green GLI3 in Pituitary hormone deficiency


    Level 2: Endocrine disorders
    Version 0.34

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Greig cephalopolysyndactyly syndrome (175700)
    • Pallister-Hall syndrome (146510)

    Green GLI3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Greig cephalopolysyndactyly syndrome

    Green GLI3 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    Phenotypes
    • Pallister-Hall syndrome, 146510

    Green GLI3 in Growth failure


    Version 1.76

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Pallister-Hall syndrome, MIM# 146510

    Green GLI3 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    • Expert Review
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
    Phenotypes
    • Greig cephalopolysyndactyly syndrome, MIM# 175700
    • Polydactyly

    Red GLI3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Polydactyly, postaxial, types A1 and B, MIM#174200
    • Greig cephalopolysyndactyly syndrome MIM#175700
    • Polydactyly, preaxial, type IV MIM#174700
    • Pallister-Hall syndrome MIM#146510