1. Genes and Genomic Entities
  2. SOX4

SOX4

SRY-box 4
OMIM: 184430, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red SOX4 in Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.14

review Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Green SOX4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.10
Latest signed off version: v7.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with speech delay and dysmorphic facies, OMIM:618506
Green SOX4 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Neurodevelopmental Disease Associated with Mild Dysmorphism
    Green SOX4 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Coffin-Siris syndrome 10, OMIM:618506
    • Syndromic intellectual disability
    • Global developmental delay
    • Intellectual disability
    • Growth delay
    • Clinodactyly of the 5th finger
    • facial dysmorphism