This Panel is marked as Deleted
Mitochondrial disorders AD Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 604712
- Clinvar variants
- Variants in RRM2B
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Arthrogryposis
- Unexplained young onset end-stage renal disease - additional genes
- Intellectual disability
- Mitochondrial liver disease, including transient infantile liver failure
- CAKUT
- Mitochondrial disorders
- Mitochondrial DNA maintenance disorder
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Acute rhabdomyolysis
- DDG2P
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Rhabdomyolysis and metabolic muscle disorders
- Early onset or syndromic epilepsy
- Unexplained kidney failure in young people
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)RRM2B was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)RRM2B was created by Sarah Leigh