SOX2

SRY-box 2
OMIM: 184429, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Red SOX2 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.6

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • association with HSCR
Tags
  • cnv

Red SOX2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.5

Component of the following Super Panels:

  • Merge for Structural eye disease v2.0
  • review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • Eye Disorders

    Green SOX2 in IUGR and IGF abnormalities

    Level 3: Growth hormone disorders
    Level 2: Endocrine disorders
    Version 1.29

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

    Green SOX2 in Pituitary hormone deficiency


    Version 2.0

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center
    • Emory Genetics Laboratory
    Phenotypes
    • Microphthalmia, syndromic 3 (206900)

    Red SOX2 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • UKGTN

    Green SOX2 in Hypogonadotropic hypogonadism

    Level 3: Hypothalamic and pituitary disorders
    Level 2: Endocrine disorders
    Version 1.27

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Other
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Microphthalmia syndromic type 3, Optic nerve hypoplasia and abnormalities of the central nervous system, 206900

    Amber SOX2 in Hypogonadotropic hypogonadism idiopathic


    Version 1.2

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Syndromic Microphthalmia type 3 (OMIM 206900)

    Green SOX2 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.34

    Component of the following Super Panels:

  • Merge for Structural eye disease v2.0
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Literature
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microphthalmia, syndromic 3 206900

    Green SOX2 in Fetal anomalies


    Version 0.346

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AEG SYNDROME
    • MICROPHTHALMIA SYNDROMIC TYPE 3

    No list SOX2 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.0

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

    Green SOX2 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.376
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AEG SYNDROME
    • MICROPHTHALMIA SYNDROMIC TYPE 3 206900

    Green SOX2 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.4

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • #206900:Optic nerve hypoplasia and abnormalities of the central nervous system
    • Hearing loss, sensorineural

    Red SOX2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.59

    Component of the following Super Panels:

  • Paediatric disorders v4.376
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • MICROPHTHALMIA, SYNDROMIC 3
    • MCOPS3

    Green SOX2 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.21

    Component of the following Super Panels:

  • Merge for Structural eye disease v2.0
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Microphthalmia, syndromic 3, 206900Optic nerve hypoplasia and abnormalities of the central nervous system, 206900
    • severe, bilateral cases

    Red SOX2 in Growth failure in early childhood


    Version 1.3

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

    Green SOX2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.376
  • White matter disorders - childhood onset v4.208
  • Hypotonic infant with a likely central cause v3.1028
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • AEG SYNDROME

    Red SOX2 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 1.203

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    • Retinitis pigmentosa 33, 610359

    Green SOX2 in Structural eye disease


    Version 0.95

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Microphthalmia, syndromic 3 206900