Gastrointestinal neuromuscular disorders
Gene: RRM2BComment on list classification: Confirmed cause of mitrochondrial disorder / MNGIE.Created: 25 Oct 2016, 4:01 p.m.
Comment on list classification: Expert review green, and current diagnostic. It is green on the mitochondrial Version 1.14 panel, inherited white matter disorder Version 1.0 and CAKUT Version 1.1 panel. Intestinal dysmotility only reported in 1 patient when looking at the clinical synopsis for OMIM phenotype 612075. Unsure whether these is enough evidence for contribution to a pseudo-obstruction phenotype.Created: 19 Oct 2016, 9:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Phenotypes for RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
RRM2B was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
RRM2B was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
RRM2B was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN
RRM2B was created by sleigh