This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: RRM2B
RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B)
EnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 21 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Modulation of nucleotide pools
- Activity: p53-inducible ribonucleotide reductase small subunit 2 homolog
- OMIM
- 604712
- Clinvar variants
- Variants in RRM2B
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial liver disease, including transient infantile liver failure
- Likely inborn error of metabolism
- CAKUT
- Mitochondrial DNA maintenance disorder
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Unexplained kidney failure in young people
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Acute rhabdomyolysis
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: REV1L is previous gene symbol.
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RRM2B was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RRM2B was created by ellenmcdonagh