SOX2

SRY-box 2
OMIM: 184429, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 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 1.7

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 1.30

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

Green SOX2 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
  • 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 2.3
Signed off v.2.2 on 19 Feb 2020

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 1.28

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • 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 1.8
Signed off v.1.4 on 4 Mar 2020

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microphthalmia, syndromic 3 206900

Green SOX2 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
  • AEG SYNDROME
  • MICROPHTHALMIA SYNDROMIC TYPE 3

No list SOX2 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 SOX2 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
    • 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 2.18
    Signed off v.2.5 on 13 Feb 2020

    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 2.3
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • 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 1.23

    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 1.8
    Signed off v.1.4 on 3 Mar 2020

    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 3.73
    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
    Phenotypes
    • AEG SYNDROME

    Red SOX2 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.13
    Signed off v.2.7 on 25 Feb 2020

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

    Green SOX2 in Structural eye disease


    Version 1.5
    Signed off v.1.3 on 4 Mar 2020

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

    Green SOX2 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
    • Microphthalmia, syndromic 3, 206900
    • Optic nerve hypoplasia and abnormalities of the central nervous system, 206900