This Panel is marked as Internal
Dystonia - childhood onset
Gene: SCP2
SCP2 (sterol carrier protein 2)
EnsemblGeneIds (GRCh38): ENSG00000116171
EnsemblGeneIds (GRCh37): ENSG00000116171
OMIM: 184755, Gene2Phenotype
SCP2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000116171
EnsemblGeneIds (GRCh37): ENSG00000116171
OMIM: 184755, Gene2Phenotype
SCP2 is in 12 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Leukoencephalopathy with dystonia and motor neuropathy, 613724
- OMIM
- 184755
- Clinvar variants
- Variants in SCP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Neonatal cholestasis
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SCP2 was added gene: SCP2 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: SCP2 was set to Unknown Publications for gene: SCP2 were set to 16685654 Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724