Mitochondrial disease
Gene: MT-RNR1

MT-RNR1 (mitochondrially encoded 12S RNA)
EnsemblGeneIds (GRCh38): ENSG00000211459
EnsemblGeneIds (GRCh37): ENSG00000211459
OMIM: 561000, Gene2Phenotype
MT-RNR1 is in 4 panels

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established pathogenic variants in MT-RNR1: m.1555A>G and m.1494C>T (MITOMAP, PMID: 20301595).
Created: 4 May 2021, 4:05 a.m. | Last Modified: 4 May 2021, 4:05 a.m.

Panel Version: 0.621

Mode of inheritance
MITOCHONDRIAL

Publications

20301595

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 May 2021, 4:05 a.m.
Last Modified: 4 May 2021, 4:05 a.m.
Panel version: 0.621

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 19 Apr 2020, 3:21 a.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Deafness; Cardiomyopathy

Created: 19 Apr 2020, 3:21 a.m.

Panel version: 0.386

Details

Mode of Inheritance

MITOCHONDRIAL

Sources

Expert Review Green
Expert list

Phenotypes

Deafness
Cardiomyopathy

Tags

mtDNA

OMIM

561000

Clinvar variants

Variants in MT-RNR1

Penetrance

None

Publications

20301595

Panels with this gene