SOX3

SRY-box 3
OMIM: 313430, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green SOX3 in IUGR and IGF abnormalities

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

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Panhypopituitarism, X-linked, 312000
  • Mental retardation, X-linked, with isolated growth hormone deficiency, 300123

Red SOX3 in Familial hypoparathyroidism

Level 3: Disorders of calcium homeostasis
Level 2: Endocrine disorders
Version 2.4
Signed off v.2.2 on 25 Feb 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mental retardation, X-linked, with isolated growth hormone deficiency, 300123
  • Panhypopituitarism, X-linked, 312000

Green SOX3 in Pituitary hormone deficiency


Version 2.4
Signed off v.2.2 on 3 Mar 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center
  • Emory Genetics Laboratory
Phenotypes
  • Panhypopituitarism, X-linked (312000)
  • Mental retardation, X-linked, with isolated growth hormone deficiency (300123)

Red SOX3 in Hypogonadotropic hypogonadism

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

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • Panhypopituitarism, X-linked

Red SOX3 in Hypogonadotropic hypogonadism idiopathic


Version 1.8
Signed off v.1.4 on 4 Mar 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Panhypopituitarism, X-linked

Green SOX3 in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEX REVERSAL TYPE 3
  • MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY

No list SOX3 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 SOX3 in DDG2P


Version 2.8
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY 300123
    • SEX REVERSAL TYPE 3 300833

    Red SOX3 in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    Phenotypes
    • Panhypopituitarism, X-linked, 312000
    • Mental retardation, X-linked, with isolated growth hormone deficiency, 300123

    Green SOX3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.130
    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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Mental retardation, X-linked, with isolated growth hormone deficiency, 300123Panhypopituitarism, X-linked, 312000
    • SEX REVERSAL TYPE 3 (SRXX3)

    Red SOX3 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.3
    Signed off v.2.2 on 25 Feb 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • GH,TSH, ACTH, LH, FSH deficiency, variable mental retardation, undescended posterior pituitary, anterior pituitary hypoplasia, or persistence of the craniopharyngeal canal

    Green SOX3 in Severe Paediatric Disorders


    Version 1.6

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked, with isolated growth hormone deficiency, 300123
    • Panhypopituitarism, X-linked, 312000