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  3. SCP2
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Leukodystrophy - paediatric

Gene: SCP2

Red List (low evidence)
SCP2 (sterol carrier protein 2)
EnsemblGeneIds (GRCh38): ENSG00000116171
EnsemblGeneIds (GRCh37): ENSG00000116171
OMIM: 184755, Gene2Phenotype
SCP2 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Further individual reported in PMID 26497993. However, onset was in adulthood and MRI findings were more in keeping with NBIA.
Created: 28 Mar 2022, 3:35 a.m. | Last Modified: 28 Mar 2022, 3:35 a.m.
Panel Version: 0.249

Phenotypes
Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724

Publications

Created: 28 Mar 2022, 3:35 a.m.
Last Modified: 28 Mar 2022, 3:35 a.m.
Panel version: 0.249

Samantha Ayres (Victorian Clinical Genetics Services)

Red List (low evidence)

Just one case report in 2006
Created: 28 Mar 2022, 2:06 a.m. | Last Modified: 28 Mar 2022, 2:06 a.m.
Panel Version: 0.246

Mode of inheritance
Unknown

Phenotypes
?Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724

Publications

Created: 28 Mar 2022, 2:06 a.m.
Last Modified: 28 Mar 2022, 2:06 a.m.
Panel version: 0.246

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy 613724
OMIM
184755
Clinvar variants
Variants in SCP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scp2 has been classified as Red List (Low Evidence).

28 Mar 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCP2 were set to

28 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scp2 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SCP2 was added gene: SCP2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy 613724