Genes in panel

Adult onset movement disorder

Gene: SCP2

Red List (low evidence)

SCP2 (sterol carrier protein 2)
EnsemblGeneIds (GRCh38): ENSG00000116171
EnsemblGeneIds (GRCh37): ENSG00000116171
OMIM: 184755, Gene2Phenotype
SCP2 is in 14 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:48 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

PMID 16685654 described a single patient with dystonia/tremor at age 17. Patient in PMID 26497993 was compuund heterozygous with NO extra pyramidal signs but mild dysmetria and dysdiadochokinesis. Onset in 30s.
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
?Leukoencephalopathy with dystonia and motor neuropathy, 613724

Publications

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SCP2 Publications for gene SCP2 were changed from PMID: 16685654 to 26497993; 16685654

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SCP2.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SCP2.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SCP2 was added gene: SCP2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SCP2 was set to Publications for gene: SCP2 were set to PMID: 16685654 Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724