Inherited white matter disorders
Gene: SCP2Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and 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: 24 Aug 2016, 1:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy 613724
Publications for SCP2 were set to 25655951; 26497993
This gene has been classified as Green List (High Evidence).
SCP2 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
SCP2 was added to Inherited white matter disorderspanel. Sources: Expert list
SCP2 was created by [email protected]