GSX2:Ensemblv90

GS homeobox 2
OMIM: 616253, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber GSX2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diencephalic-mesencephalic junction dysplasia syndrome 2 618646
  • Intellectual disability
  • Dystonia
  • Spastic tetra paresis

Amber GSX2 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diencephalic-mesencephalic junction dysplasia syndrome 2 618646

Amber GSX2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diencephalic-mesencephalic junction dysplasia syndrome 2 618646
  • Intellectual disability
  • Dystonia
  • Spastic tetra paresis

Amber GSX2 in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 0.290

Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Diencephalic-mesencephalic junction dysplasia syndrome 2 618646
    • Intellectual disability
    • Dystonia
    • Spastic tetra paresis

    Amber GSX2 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Diencephalic-mesencephalic junction dysplasia syndrome 2 618646
    • Intellectual disability
    • Dystonia
    • Spastic tetra paresis

    Amber GSX2 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Diencephalic-mesencephalic junction dysplasia syndrome 2 618646
    • Intellectual disability
    • Dystonia
    • Spastic tetra paresis