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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: SCP2

Red List (low evidence)
SCP2 (sterol carrier protein 2)
EnsemblGeneIds (GRCh38): ENSG00000116171
EnsemblGeneIds (GRCh37): ENSG00000116171
OMIM: 184755, Gene2Phenotype
SCP2 is in 12 panels

1 review

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: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SCP2 was changed from to Unknown Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SCP2

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to SCP2.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SCP2 was added gene: SCP2 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: SCP2 was set to