Mitochondrial disorders
Gene: RARS2

RARS2 (arginyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000146282
EnsemblGeneIds (GRCh37): ENSG00000146282
OMIM: 611524, Gene2Phenotype
RARS2 is in 14 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 12 Feb 2016, 11:38 a.m.

Comment on list classification: Both reviewers agree this gene should be promoted from red to green. Confirmed DD gene for Pontocerebellar hypoplasia type 6.
Created: 12 Feb 2016, 11:37 a.m.

Created: 12 Feb 2016, 11:37 a.m.

Panel version: 0.259

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list
Expert

Phenotypes

Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Pontocerebellar hypoplasia, type 6, 611523

OMIM

611524

Clinvar variants

Variants in RARS2

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to RARS2. Panel: Mitochondrial disorders

12 Feb 2016, Gel status: 4