SATB2

SATB homeobox 2
OMIM: 608148, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green SATB2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NONSPECIFIC SEVERE ID
  • SYNDROMAL PIERRE ROBIN SEQUENCE
  • CLEFT PALATE ISOLATED
Green SATB2 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
    • NONSPECIFIC SEVERE ID
    • CLEFT PALATE ISOLATED 119540
    • SYNDROMAL PIERRE ROBIN SEQUENCE
    Green SATB2 in Clefting


    Level 2: Musculoskeletal
    Version 7.9
    Latest signed off version: v7.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Glass syndrome
    • Chromosome 2q32-q33 deletion syndrome
    • Orofacial Clefting with skeletal features
    • Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas
    • GLASS SYNDROME
    • GLASS
    • Cleft palate
    Green SATB2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.68
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Glass syndrome, OMIM:612313
    Green SATB2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.9
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cleft palate and mental retardation, 119540
    • CLEFT PALATE ISOLATED (CPI)