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  2. Intellectual disability syndromic and non-syndromic
  3. MARS2
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Intellectual disability syndromic and non-syndromic

Gene: MARS2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family with ID reported.
Created: 7 Mar 2020, 5:31 a.m. | Last Modified: 7 Mar 2020, 5:31 a.m.
Panel Version: 0.2428

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 25, OMIM #616430

Publications

Created: 7 Mar 2020, 5:31 a.m.
Last Modified: 7 Mar 2020, 5:31 a.m.
Panel version: 0.2428

Chirag Patel (Genetic Health Queensland)

I don't know

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.

No ID in the spastic ataxia families.
Created: 5 Dec 2019, 12:41 a.m. | Last Modified: 5 Dec 2019, 12:41 a.m.
Panel Version: 0.411

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 5 Dec 2019, 12:41 a.m.
Last Modified: 5 Dec 2019, 12:41 a.m.
Panel version: 0.411

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
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

7 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mars2 has been classified as Red List (Low Evidence).

6 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mars2 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: mars2 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MARS2. Source Expert list was added to MARS2. Mode of inheritance for gene MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MARS2 were changed from to ?Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390 Publications for gene MARS2 were changed from PMID: 25754315 to PMID: 25754315

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MARS2 was set to Unknown