1. Genes and Genomic Entities
  2. SATB2

SATB2

SATB homeobox 2
OMIM: 608148, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red SATB2 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green SATB2 in Fetal anomalies


Version 3.157
Latest signed off version: v3.0 (22 Mar 2023)

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 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.109
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.195
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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)
    Green SATB2 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glass syndrome, 612313