Inherited white matter disorders
Gene: RRM2BComment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM, not on G2P. Numerous 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, 1:11 p.m.
Comment on phenotypes: Also associated with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077Created: 24 Aug 2016, 1:06 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).
RRM2B was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Publications for RRM2B were set to 25655951
This gene has been classified as Green List (High Evidence).
Phenotypes for RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
RRM2B was created by [email protected]
RRM2B was added to Inherited white matter disorderspanel. Sources: Expert list