Peroxisomal disorders

Gene: SCP2

Green List (high evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.
Created: 22 Aug 2016, 1:52 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

22 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SCP2 were set to 25655951; 26497993;

22 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

SCP2 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

22 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy 613724

19 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

SCP2 was created by [email protected]

19 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

SCP2 was added to Peroxisomal disorderspanel. Sources: Expert list