GLI2

GLI family zinc finger 2
OMIM: 165230, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red GLI2 in Familial Neural Tube Defects


Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly

Green GLI2 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Holoprosencephaly, hypopituitarism

Green GLI2 in Pituitary hormone deficiency


Version 2.4
Signed off v.2.2 on 3 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Culler-Jones syndrome (615849)
  • Holoprosencephaly 9 (610829)

Green GLI2 in Limb disorders


Version 2.11
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Holoprosencephaly 9 610829
    • Culler-Jones syndrome 615849
    • Polydactyly

    Green GLI2 in Hypogonadotropic hypogonadism

    Level 3: Hypothalamic and pituitary disorders
    Level 2: Endocrine disorders
    Version 1.28

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Culler-Jones syndrome, (includes hypogonadotropic hypogonadism) 615849
    • Holoprosencephaly-9, 610829

    Red GLI2 in Hypogonadotropic hypogonadism idiopathic


    Version 1.8
    Signed off v.1.4 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • Expert Review Red
    • NHS GMS
    • South West GLH
    Phenotypes
    • Culler-Jones syndrome (OMIM 615849)

    Red GLI2 in Disorders of sex development

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 2.4
    Signed off v.2.2 on 3 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Culler-Jones syndrome, 615849
    • Holoprosencephaly-9, 610829

    Green GLI2 in Holoprosencephaly

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.5
    Signed off v.2.3 on 27 Feb 2020

    Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Other
    • UKGTN
    Phenotypes
    • Holoprosencephaly-9
    • Holoprosencephaly
    • Holoprosencephaly 9, 610829

    Green GLI2 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GLI2-RELATED HOLOPROSENCEPHALY

    No list GLI2 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.6
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Proportionate Short Stature/Small for Gestational Age

    Green GLI2 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GLI2-RELATED HOLOPROSENCEPHALY 261768

    Red GLI2 in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • Holoprosencephaly, hypopituitarism

    Green GLI2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.160
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Holoprosencephaly-9, 610829
    • GLI2-RELATED HOLOPROSENCEPHALY

    Amber GLI2 in Structural eye disease


    Version 1.9
    Signed off v.1.3 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Holoprosencephaly 9, 610829

    Green GLI2 in Severe Paediatric Disorders


    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Holoprosencephaly 9, 610829
    • Culler-Jones syndrome, 615849