Peroxisomal disorders
Gene: SCP2
Two families reported. Second individual's MRI findings were more in keeping with an iron deposition disorder rather than a leukodystrophy.Created: 28 Mar 2022, 3:39 a.m. | Last Modified: 28 Mar 2022, 3:39 a.m.
Panel Version: 1.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
Publications
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.
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
Promoted to V1 3rd October 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SCP2 were set to 25655951; 26497993;
SCP2 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy 613724
SCP2 was created by [email protected]
SCP2 was added to Peroxisomal disorderspanel. Sources: Expert list