SOX6

SRY-box 6
OMIM: 607257, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SOX6 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Tolchin-Le Caignec syndrome, MIM# 618971
    • Developmental delay
    • ID
    • ASD
    • ADHD
    • Parkinsonism
    • Syringomyelia

    Green SOX6 in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.68

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • ADHD
    • Craniosynostosis
    • Osteochondromas
    • Tolchin-Le Caignec syndrome, MIM#618971

    Green SOX6 in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • ADHD
    • Craniosynostosis
    • Osteochondromas
    • Tolchin-Le Caignec syndrome, MIM#618971

    Green SOX6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • ADHD
    • Craniosynostosis
    • Osteochondromas
    • Tolchin-Le Caignec syndrome, MIM#618971

    Green SOX6 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Tolchin-Le Caignec syndrome, MONDO:0033544
    • Tolchin-Le Caignec syndrome, OMIM:618971