Peroxisomal Disorders
Gene: SCP2

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)

I don't know

Second individual reported in 2015 with compound heterozygous LoF variants and NBIA phenotype, although underlying mechanism thought to be abnormality in VLCFA metabolism (peroxisomal disorder).
Created: 28 Mar 2022, 3:32 a.m. | Last Modified: 28 Mar 2022, 3:32 a.m.

Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724

Publications

26497993

Created: 28 Mar 2022, 3:32 a.m.
Last Modified: 28 Mar 2022, 3:32 a.m.
Panel version: 0.23

Samantha Ayres (Victorian Clinical Genetics Services)

Red List (low evidence)

Just one case report in 2006.
Created: 28 Mar 2022, 2:05 a.m. | Last Modified: 28 Mar 2022, 2:05 a.m.

Panel Version: 0.23

Mode of inheritance
Unknown

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

Publications

16685654

Created: 28 Mar 2022, 2:05 a.m.
Last Modified: 28 Mar 2022, 2:05 a.m.
Panel version: 0.23

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724

OMIM

184755

Clinvar variants

Variants in SCP2

Penetrance

None

Publications

Panels with this gene