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Mitochondrial disease

Gene: RRM1

Amber List (moderate evidence)

RRM1 (ribonucleotide reductase catalytic subunit M1)
EnsemblGeneIds (GRCh38): ENSG00000167325
EnsemblGeneIds (GRCh37): ENSG00000167325
OMIM: 180410, Gene2Phenotype
RRM1 is in 2 panels

2 reviews

Daniel Flanagan (Victorian Clinical Genetics Services)

I don't know

Homozygous missense were identified in 4 four probands (p.Arg381Cys or p.Arg381His) from three families, who presented with ptosis and ophthalmoplegia, plus other manifestations and multiple mtDNA deletions in muscle. Heterozygous carriers were unaffected. An additional proband was heterozygous for a different RRM1 missense (p.Asn427Lys), another variant not identified.
Sources: Expert list
Created: 2 Jun 2022, 1:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial DNA deletion syndrome (MONDO:0016797)

Publications

Seb Lunke (Victorian Clinical Genetics Services)

Comment on list classification: 3 families but only 2 Hom variants, not convinced they are definitely unrelated. 4th probed inconclusive.
Created: 2 Jun 2022, 1:52 a.m. | Last Modified: 2 Jun 2022, 1:52 a.m.
Panel Version: 1.52

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647
OMIM
180410
Clinvar variants
Variants in RRM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RRM1 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647 to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647

8 Dec 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RRM1 were changed from Multiple mitochondrial DNA deletion syndrome (MONDO:0016797) to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647

2 Jun 2022, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: rrm1 has been classified as Amber List (Moderate Evidence).

2 Jun 2022, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: rrm1 has been classified as Amber List (Moderate Evidence).

2 Jun 2022, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: rrm1 has been classified as Amber List (Moderate Evidence).

2 Jun 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Daniel Flanagan (Victorian Clinical Genetics Services)

gene: RRM1 was added gene: RRM1 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: RRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RRM1 were set to PMID: 35617047 Phenotypes for gene: RRM1 were set to Multiple mitochondrial DNA deletion syndrome (MONDO:0016797) Review for gene: RRM1 was set to AMBER