SOX8

SRY-box 8
OMIM: 605923, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red SOX8 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), SOX8-related

Red SOX8 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), SOX8-related

    Red SOX8 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), SOX8-related

    Red SOX8 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), SOX8-related