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  2. Dystonia - complex
  3. GSX2
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Dystonia - complex

Gene: GSX2

Amber List (moderate evidence)
GSX2 (GS homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000180613
EnsemblGeneIds (GRCh37): ENSG00000180613
OMIM: 616253, Gene2Phenotype
GSX2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families, some functional data.
Sources: Literature
Created: 20 Apr 2020, 6 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis

Publications

Created: 20 Apr 2020, 6 a.m.

Panel version: 0.63

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diencephalic-mesencephalic junction dysplasia syndrome 2 618646
  • Intellectual disability
  • Dystonia
  • Spastic tetra paresis
OMIM
616253
Clinvar variants
Variants in GSX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gsx2 has been classified as Amber List (Moderate Evidence).

20 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gsx2 has been classified as Amber List (Moderate Evidence).

20 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GSX2 was added gene: GSX2 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSX2 were set to 31412107 Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis Review for gene: GSX2 was set to AMBER