1. Panels
  2. Hereditary Spastic Paraplegia - paediatric
  3. MARS2
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Spastic Paraplegia - paediatric

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)

Green List (high evidence)

Comment on list classification: CNVs (duplications) are the only reported cause of this condition, which may not be detected using WES.
Created: 19 Apr 2020, 8:56 a.m. | Last Modified: 19 Apr 2020, 8:56 a.m.
Panel Version: 0.64
Large duplications identified in 17 French-Canadian families. Spasticity can be present at birth and precede ataxia.
Sources: Expert list
Created: 19 Apr 2020, 8:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 3, autosomal recessive MIM#611390

Publications

Created: 19 Apr 2020, 8:55 a.m.

Panel version: 0.63

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 3, autosomal recessive, MIM#611390

Publications

Created: 5 Dec 2019, 4:29 a.m.
Last Modified: 5 Dec 2019, 4:29 a.m.
Panel version: Imported from Hereditary Spastic Paraplegia panel version 0.6

Details

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

History Filter Activity

19 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).

19 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).

19 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MARS2 was added gene: MARS2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list SV/CNV tags were added to gene: MARS2. Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to 16672289; 22448145 Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390 Review for gene: MARS2 was set to GREEN