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Mendeliome

Gene: MARS2

Green List (high evidence)

MARS2 (methionyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000247626
EnsemblGeneIds (GRCh37): ENSG00000247626
OMIM: 609728, Gene2Phenotype
MARS2 is in 11 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by ClinGen Mitochondrial Diseases GCEP on 04/05/2022 - https://search.clinicalgenome.org/CCID:005338
Created: 2 Mar 2025, 9:39 p.m. | Last Modified: 2 Mar 2025, 9:39 p.m.
Panel Version: 1.2333

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
mitochondrial disease MONDO:0044970

Publications

  • https://search.clinicalgenome.org/CCID:005338

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Only large duplications have been reported in ataxia. WES is not a suitable method of detection for SV/CNVs.
Created: 6 Apr 2020, 1:40 a.m. | Last Modified: 6 Apr 2020, 1:40 a.m.
Panel Version: 0.19

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

1 family with 2 sibs with combined oxidative phosphorylation deficiency-25 (with ID) with compound heterozygous mutations in the MARS2 gene. Patient fibroblasts showed decreased activities of mitochondrial complexes I and IV, consistent with a mitochondrial translation defect. Immunoblot analysis showed reduced MARS2 protein levels as well as reduced levels of selected subunits of complexes I and IV. Spastic ataxia association: note complex chromosomal rearrangements rather than SNVs reported in group of 54 French Canadians.
Created: 5 Dec 2019, 3:47 a.m. | Last Modified: 14 Apr 2020, 2:16 a.m.
Panel Version: 0.2259

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 25, OMIM #616430
  • Spastic ataxia 3, autosomal recessive, OMIM #611390
OMIM
609728
Clinvar variants
Variants in MARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mars2 has been classified as Green List (High Evidence).

14 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MARS2 were changed from to Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390

14 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MARS2 were set to

14 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MARS2 was added gene: MARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MARS2 was set to Unknown