Genes in panel
Regions in panel
Prev Next

Intellectual disability

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 21 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Predominant presentation is with metabolic decompensation / lactic acidosis in infancy. However, as per Louise Daugherty's reviews, ID is noted. Borderline but considered appropriate for inclusion at present.
Created: 21 Dec 2017, 2:19 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Confirmed DD-G2P loss of function gene for Mitochondrial depletion syndrome. ID noted as being a feature, but not observed in all cases and not the dominant phenotype. However there are more than 3 unrelated cases with Mitochondrial depletion syndrome that show either global developmental delay or Learning difficulties. Because intellectual disability is not the dominant phenotype this gene was discussed further with clinical team and it was decided that on balance to rate the gene Green, as it may help in the diagnosis for those with ID. There are follow up metabolic tests that can be considered if variants are identified without clear clinical significance.
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial depletion syndrome; Intellectual disability

Publications

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

RRM2B was added to Intellectual disability panel. Sources: Expert Review Green

4 Jan 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

RRM2B was created by Sarah Leigh