Gastrointestinal neuromuscular disorders
Gene: RRM2BEnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 21 panels
3 reviews
Richard Scott (Genomics England Curator)
Comment on list classification: Confirmed cause of mitrochondrial disorder / MNGIE.Created: 25 Oct 2016, 4:01 p.m.
Ellen McDonagh (Genomics England Curator)
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.
Neil shah (GOSH)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
- Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
- OMIM
- 604712
- Clinvar variants
- Variants in RRM2B
- Penetrance
- Complete
- Panels with this gene
-
- CAKUT
- Undiagnosed metabolic disorders
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial DNA maintenance disorder
- Unexplained kidney failure in young people
- Childhood onset dystonia, chorea or related movement disorder
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Intellectual disability
- Fetal anomalies
- DDG2P
- Likely inborn error of metabolism
- Mitochondrial disorders
- Acute rhabdomyolysis
- White matter disorders and cerebral calcification - narrow panel
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Unexplained young onset end-stage renal disease - additional genes
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Added New Source
Sarah Leigh (Genomics England Curator)RRM2B was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)RRM2B was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)RRM2B was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)RRM2B was created by sleigh