SHOX

short stature homeobox
OMIM: 312865, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green SHOX in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Leri-Weill dyschondrosteosis, 127300
  • bowing of the radius
  • radioulnar shortening
  • Langer mesomelic dysplasia, 249700
  • curved radius
  • dorsolateral bowed, short radii

Green SHOX in IUGR and IGF abnormalities

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

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory

Green SHOX in Limb disorders


Version 2.11
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Langer mesomelic dysplasia, 249700
    • dorsolateral bowed, short radii
    • bowing of the radius
    • curved radius
    • radioulnar shortening
    • Leri-Weill dyschondrosteosis, 127300

    Red SHOX in Autism


    Version 0.15

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green SHOX in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Langer mesomelic dysplasia 249700
    • Short stature, idiopathic familial 300582
    • Leri-Weill dyschondrosteosis 127300

    Green SHOX in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LANGER MESOMELIC DYSPLASIA
    • LERI-WEILL DYSCHONDROSTEOSIS

    Red SHOX 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 Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short stature, idiopathic familial, 300582
    • Leri-Weill dyschondrosteosis, 127300
    • Langer mesomelic dysplasia, 249700
    • Proportionate Short Stature/Small for Gestational Age
    • Disproportionate Short Stature

    Green SHOX in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LERI-WEILL DYSCHONDROSTEOSIS 127300
    • LANGER MESOMELIC DYSPLASIA 249700

    Red SHOX in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red

    Red SHOX 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 Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • SHOX deficiency (with Intellectual disability)
    Tags
    • microdeletion

    Green SHOX in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leri-Weill dyschondrosteosis, 127300
    • Short stature, idiopathic familial, 300582
    • Langer mesomelic dysplasia, 249700