RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B
OMIM: 604712, Gene2Phenotype

23 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 23 panels
Green RRM2B in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.23	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Green RRM2B in Rhabdomyolysis and metabolic muscle disorders Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.48 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077
Green RRM2B in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Green RRM2B in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Red RRM2B in Mitochondrial liver disease, including transient infantile liver failure Version 1.12 Latest signed off version: v1.9 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Green RRM2B in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Green RRM2B in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.118 Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Green RRM2B in Mitochondrial DNA maintenance disorder Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Red RRM2B in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red Expert list
Red RRM2B in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.175 Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Green RRM2B in Unexplained young onset end-stage renal disease Version 3.40 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
Green RRM2B in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism) Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Mitochondrial DNA Depletion Syndrome (recessive)
Green RRM2B in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Mitochondrial DNA Depletion Syndrome (recessive) Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism) Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant) Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
Green RRM2B in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Green RRM2B in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Mitochondrial depletion syndrome
Green RRM2B in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Mitochondrial depletion syndrome
Amber RRM2B in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 seizures status epilepticus
Green RRM2B in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green 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
Green RRM2B in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Mitochondrial DNA Depletion Syndrome (recessive)
Red RRM2B in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green RRM2B in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Amber RRM2B in Acute rhabdomyolysis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.18 Latest signed off version: v1.7 (31 May 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, OMIM:613077 Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075
Red RRM2B in Paediatric pseudo-obstruction syndrome Version 1.5 Latest signed off version: v1.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075

RRM2B

23 panels

Green RRM2B in Gastrointestinal neuromuscular disorders

Sources

Phenotypes

Green RRM2B in Rhabdomyolysis and metabolic muscle disorders

Sources

Phenotypes

Green RRM2B in Other rare neuromuscular disorders

Sources

Phenotypes

Green RRM2B in White matter disorders and cerebral calcification - narrow panel

Sources

Phenotypes

Red RRM2B in Mitochondrial liver disease, including transient infantile liver failure

Sources

Phenotypes

Green RRM2B in Inherited white matter disorders

Sources

Phenotypes

Green RRM2B in Unexplained kidney failure in young people

Sources

Phenotypes

Green RRM2B in Mitochondrial DNA maintenance disorder

Sources

Phenotypes

Red RRM2B in Arthrogryposis

Sources

Red RRM2B in CAKUT

Sources

Phenotypes

Green RRM2B in Unexplained young onset end-stage renal disease

Sources

Phenotypes

Green RRM2B in Undiagnosed metabolic disorders

Sources

Phenotypes

Green RRM2B in Likely inborn error of metabolism - targeted testing not possible

Sources

Phenotypes

Green RRM2B in Possible mitochondrial disorder - nuclear genes

Sources

Phenotypes

Green RRM2B in Fetal anomalies

Sources

Phenotypes

Green RRM2B in DDG2P

Sources

Phenotypes

Amber RRM2B in Early onset or syndromic epilepsy

Sources

Phenotypes

Green RRM2B in Intellectual disability - microarray and sequencing

Sources

Phenotypes

Green RRM2B in Mitochondrial disorders

Sources

Phenotypes

Red RRM2B in Childhood onset dystonia, chorea or related movement disorder

Sources

Green RRM2B in Severe Paediatric Disorders

Sources

Phenotypes

Amber RRM2B in Acute rhabdomyolysis

Sources

Phenotypes

Red RRM2B in Paediatric pseudo-obstruction syndrome

Sources

Phenotypes