Early onset dystonia
Gene: AP1S2
AP1S2 (adaptor related protein complex 1 sigma 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000182287
EnsemblGeneIds (GRCh37): ENSG00000182287
OMIM: 300629, Gene2Phenotype
AP1S2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000182287
EnsemblGeneIds (GRCh37): ENSG00000182287
OMIM: 300629, Gene2Phenotype
AP1S2 is in 14 panels
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 300629
- Clinvar variants
- Variants in AP1S2
- Penetrance
- Complete
- Panels with this gene
-
- Hydrocephalus
- Adult onset neurodegenerative disorder
- Structural basal ganglia disorders
- Intracerebral calcification disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()AP1S2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory