SOX6

SRY-box 6
OMIM: 607257, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red SOX6 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 SOX6 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.5
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tolchin-Le Caignec syndrome, OMIM:618971
  • Tolchin-Le Caignec syndrome, MONDO:0033544
Green SOX6 in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 7.1
Latest signed off version: v7.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Tolchin-Le Caignec syndrome, OMIM:618971
  • craniosynostosis
Green SOX6 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SOX6-related neurodevelopmental syndrome
    Green SOX6 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • intellectual diability
    • ADHD
    • Craniosynostosis
    • Osteochondromas