Gastrointestinal neuromuscular disorders

Gene: RRM2B

Green List (high evidence)

RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B)
EnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 15 panels

3 reviews

Richard Scott (Genomics England Curator)

Comment on list classification: Confirmed cause of mitrochondrial disorder / MNGIE.
25 Oct 2016, 4:01 p.m.

Ellen McDonagh (Genomics England Curator)

I don't know

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.
19 Oct 2016, 9:42 a.m.

Neil shah (GOSH)

Green List (high evidence)

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

History Filter Activity

26 Oct 2016, Gel status: 4

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.

25 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2016, Gel status: 3

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)

31 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075

31 Aug 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

RRM2B was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

31 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

RRM2B was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

RRM2B was created by sleigh

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RRM2B was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN