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  3. MARS2
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Ataxia - adult onset

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

2 reviews

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
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)

Note complex chromosomal rearrangements rather than SNVs reported in group of 54 French Canadians.
Created: 7 Mar 2020, 5:33 a.m. | Last Modified: 7 Mar 2020, 5:33 a.m.
Panel Version: 0.110

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 3, autosomal recessive, MIM#611390

Publications

Created: 5 Dec 2019, 4:27 a.m.
Last Modified: 5 Dec 2019, 4:27 a.m.
Panel version: Imported from Ataxia panel version 0.113

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 3, autosomal recessive, 611390
Tags
SV/CNV
OMIM
609728
Clinvar variants
Variants in MARS2
Penetrance
None
Panels with this gene

History Filter Activity

6 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MARS2 was added gene: MARS2 was added to Ataxia - adult onset_RMH. Sources: Expert list SV/CNV tags were added to gene: MARS2. Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390 Review for gene: MARS2 was set to RED