Mitochondrial disease
Gene: RRM1EnsemblGeneIds (GRCh38): ENSG00000167325
EnsemblGeneIds (GRCh37): ENSG00000167325
OMIM: 180410, Gene2Phenotype
RRM1 is in 2 panels
2 reviews
Daniel Flanagan (Victorian Clinical Genetics Services)
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 listCreated: 2 Jun 2022, 1:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial DNA deletion syndrome (MONDO:0016797)
Publications
- PMID: 35617047
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
-
- PMID: 35617047
- Panels with this gene
History Filter Activity
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
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
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: rrm1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: rrm1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: rrm1 has been classified as Amber List (Moderate Evidence).
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