SATB2

SATB homeobox 2
OMIM: 608148, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red SATB2 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Green SATB2 in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

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 2.76
Latest signed off version: v2.2 (13 Feb 2020)

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 2.69
    Latest signed off version: v2.2 (4 Mar 2020)

    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

    No list SATB2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.558
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Glass syndrome, MIM# 612313

    Green SATB2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.127

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