SATB1

SATB homeobox 1
OMIM: 602075, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SATB1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kohlschutter-Tonz syndrome-like, MIM# 619229
  • Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228
  • Neurodevelopmental disorder
  • intellectual disability
  • epilepsy
  • microcephaly

Green SATB1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Kohlschutter-Tonz syndrome-like, MIM# 619229
    • Neurodevelopmental disorder
    • Intellectual disability
    • Epilepsy
    • Microcephaly
    • Regression

    Green SATB1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kohlschutter-Tonz syndrome-like, MIM# 619229
    • Neurodevelopmental disorder
    • regression

    Green SATB1 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
    • Kohlschutter-Tonz syndrome-like, MIM# 619229
    • Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228
    • Neurodevelopmental disorder
    • intellectual disability
    • epilepsy
    • microcephaly