RRM2B

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

21 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Green RRM2B in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.30	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 2: Neurology Version 5.17 Latest signed off version: v5.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen UKGTN Literature Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services 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 White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.24 Latest signed off version: v7.0 (30 Apr 2025) 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 Level 2: Mitochondrial Version 1.14 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 1.186	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 1.125	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 Level 2: Mitochondrial Version 3.9 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 2: Neurology Version 9.32 Latest signed off version: v9.0 (30 Apr 2025)	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 1.182	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 Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	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 Level 2: Metabolic Version 8.107 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Mitochondrial Version 4.27 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Mitochondrial depletion syndrome
Green RRM2B in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Neurology Version 8.176 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders 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 Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) 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 2: Mitochondrial Version 9.51 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 7.20 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Amber RRM2B in Acute rhabdomyolysis Level 2: Neurology Version 2.8 Latest signed off version: v2.0 (30 Apr 2025)	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 Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	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
Green RRM2B in Unexplained young onset end-stage renal disease - additional genes Level 2: Renal Version 1.6 Latest signed off version: v1.1 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, OMIM:268315

RRM2B

21 panels

Green RRM2B in Gastrointestinal neuromuscular disorders

Sources

Phenotypes

Green RRM2B in Rhabdomyolysis and metabolic muscle 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 Undiagnosed metabolic disorders

Sources

Phenotypes

Green RRM2B in Likely inborn error of metabolism

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

Sources

Phenotypes

Green RRM2B in Mitochondrial disorders

Sources

Phenotypes

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

Sources

Amber RRM2B in Acute rhabdomyolysis

Sources

Phenotypes

Red RRM2B in Paediatric pseudo-obstruction syndrome

Sources

Phenotypes

Green RRM2B in Unexplained young onset end-stage renal disease - additional genes

Sources

Phenotypes