Early onset dystonia
Gene: SCP2EnsemblGeneIds (GRCh38): ENSG00000116171
EnsemblGeneIds (GRCh37): ENSG00000116171
OMIM: 184755, Gene2Phenotype
SCP2 is in 12 panels
1 review
Ellen Thomas (Genomics England Curator)
Comment on list classification: Only one familyCreated: 27 May 2016, 9:40 a.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Leukoencephalopathy with dystonia and motor neuropathy, 613724
- OMIM
- 184755
- Clinvar variants
- Variants in SCP2
- Penetrance
- Complete
- Publications
-
- PMID: 16685654
- Panels with this gene
-
- Neonatal cholestasis
- Inherited white matter disorders
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Peroxisomal disorders
- Early onset dystonia
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for SCP2 were set to PMID: 16685654
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()SCP2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()SCP2 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen