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| Dystonia and Chorea v1.0 | GSX2 | Gene migrated from ENSG00000180613 to ENSG00000180613 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.346 | GSX2 | Zornitza Stark Publications for gene: GSX2 were set to 31412107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.345 | GSX2 | Zornitza Stark Classified gene: GSX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.345 | GSX2 | Zornitza Stark Gene: gsx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.344 | GSX2 |
Zornitza Stark edited their review of gene: GSX2: Added comment: Additional report of siblings from a consanguineous family affected with diencephalic-mesencephalic junction dysplasia Proband was tested, and a homozygous variant was identified: c.747G>C (p.Trp249Cys) - variant is absent in gnomAD v4.1 The sibling was not tested but both healthy parents were identified as heterozygous.; Changed rating: GREEN; Changed publications: 31412107, 39119454; Changed phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 2 618646, Intellectual disability, Dystonia, Spastic tetra paresis |
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| Dystonia and Chorea v0.64 | GSX2 | Zornitza Stark Marked gene: GSX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.64 | GSX2 | Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.64 | GSX2 | Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.64 | GSX2 | Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.63 | GSX2 |
Zornitza Stark 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 Added comment: Two unrelated families, some functional data. Sources: Literature |
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