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  2. Likely inborn error of metabolism
  3. MARS2
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Likely inborn error of metabolism

Gene: MARS2

Green List (high evidence)
MARS2 (methionyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000247626
EnsemblGeneIds (GRCh37): ENSG00000247626
OMIM: 609728, Gene2Phenotype
MARS2 is in 13 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Missense variants in this gene reported for Combined oxidative phosphorylation deficiency 25.
Created: 30 Nov 2016, 10:14 a.m.
Comment on mode of inheritance: Confirmed on OMIM.
Created: 15 Mar 2016, 8:36 a.m.
Comment on list classification: Two reviewers suggesting that this gene should be green: Carl Fratter also suggests this should be green, therefore promoted from red to green.
Created: 15 Mar 2016, 8:36 a.m.
Created: 30 Nov 2016, 10:14 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.16

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Spastic Ataxia 13, autosomal recessive, 611390
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • ?Combined oxidative phosphorylation deficiency 25
OMIM
609728
Clinvar variants
Variants in MARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MARS2. Source London North GLH was added to MARS2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ?Combined oxidative phosphorylation deficiency 25 for gene: MARS2 Publications for gene MARS2 were changed from 25754315; PMID: 22448145 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MARS2 was added gene: MARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to 25754315; PMID: 22448145 Phenotypes for gene: MARS2 were set to Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 25