Genomics England

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial depletion syndrome
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial depletion syndrome
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	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 in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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)
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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 in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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 in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in Unexplained young onset end-stage renal disease - additional genes Component of the following Super Panels: - Unexplained young onset end-stage renal disease Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	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
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)