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Intellectual disability

Gene: GSX2

Amber List (moderate evidence)

GSX2 (GS homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000180613
EnsemblGeneIds (GRCh37): ENSG00000180613
OMIM: 616253, Gene2Phenotype
GSX2 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least 2 unrealated cases, together with supportive functional studies (PMID 31412107).
Created: 7 Jul 2020, 3:47 p.m. | Last Modified: 7 Jul 2020, 3:48 p.m.
Panel Version: 3.145

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families, some functional data.
Sources: Literature
Created: 23 Apr 2020, 4:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
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

7 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

23 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GSX2 was added gene: GSX2 was added to Intellectual disability. 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