1. Genes and Genomic Entities
  2. SOX2

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 1.10

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 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green SOX2 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.59

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Green SOX2 in Pituitary hormone deficiency


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center
  • Emory Genetics Laboratory
Phenotypes
  • Microphthalmia, syndromic 3, OMIM:206900
  • anophthalmia/microphthalmia-esophageal atresia syndrome, MONDO:0008799
Red SOX2 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

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 1.41

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia syndromic type 3, Optic nerve hypoplasia and abnormalities of the central nervous system, 206900
Amber SOX2 in Hypogonadotropic hypogonadism (GMS)


Version 3.18
Latest signed off version: v3.0 (22 Mar 2023)

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 1.47

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 3 206900
Green SOX2 in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

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 4.5
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
  • curated_removed
Green SOX2 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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 Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.36
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  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
    Tags
    • for-review
    • to_be_confirmed_NHSE
    Red SOX2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.108
    Latest signed off version: v4.0 (22 Mar 2023)

    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 1.51

    		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 3.88
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Green SOX2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    • Retinitis pigmentosa 33, 610359
    Green SOX2 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 1.184

    		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