Arthrogryposis
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
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No known association with arthrogryposisCreated: 22 Dec 2016, 3:26 p.m.
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 604712
- Clinvar variants
- Variants in RRM2B
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric pseudo-obstruction syndrome
- Arthrogryposis
- Unexplained young onset end-stage renal disease - additional genes
- Mitochondrial liver disease, including transient infantile liver failure
- CAKUT
- Mitochondrial DNA maintenance disorder
- White matter disorders and cerebral calcification - narrow panel
- Acute rhabdomyolysis
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Inherited white matter disorders
- Fetal anomalies
- Rhabdomyolysis and metabolic muscle disorders
- Unexplained kidney failure in young people
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
22 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RRM2B was added to Arthrogryposispanel. Sources: Expert list
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RRM2B was created by ellenmcdonagh