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Paediatric pseudo-obstruction syndrome

Gene: RRM2B

Red List (low 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

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on list classification: This gene should be rated RED as this gene was associated with mitochondrial DNA depletion syndrome 8B (MNGIE type) (#612075) from only one patient from PMID:19667227.

This adult patient exhibited clinical findings strongly suggestive for MNGIE such as gastrointestinal dysmotility, cachexia and peripheral neuropathy. This patient also showed severe mtDNA depletion in muscle tissue and was identified with two variants in the RRM2B gene.

Although gastrointestinal phenotypes are found in some of the patients with mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) (10 out of 31), these are limited to recurrent vomiting, feed intolerance, chronic diarrhea and cachexia and none of them had gastrointestinal dysmotility or pseudo-obstruction (PMID:24741716).

This gene is associated with relevant phenotypes in both OMIM and G2P.
Created: 30 Dec 2022, 7:04 p.m. | Last Modified: 30 Dec 2022, 7:06 p.m.
Panel Version: 0.125

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 30 Dec 2022, 7:04 p.m.
Last Modified: 30 Dec 2022, 7:06 p.m.
Panel version: 0.216

Eleanor Williams (Genomics England Curator)

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Mitochondrial depletion disorders (MNGIE, MELAS, myopathy, other). Protein function: p53-inducible subunit of ribonucleotide reductase.
Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2

Mode of inheritance
Unknown

Phenotypes
Issues in maintenance of mtDNA dNTP pools

Publications

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

History Filter Activity

30 Dec 2022, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075

30 Dec 2022, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: RRM2B were set to

30 Dec 2022, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: RRM2B was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: RRM2B was added gene: RRM2B was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: RRM2B was set to