Dystonia - complex
Gene: MARS2EnsemblGeneIds (GRCh38): ENSG00000247626
EnsemblGeneIds (GRCh37): ENSG00000247626
OMIM: 609728, Gene2Phenotype
MARS2 is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Large duplications that are not detected by WES are the only reported cause of the form of spastic ataxia caused by this gene.Created: 6 Apr 2020, 1:47 a.m. | Last Modified: 6 Apr 2020, 1:47 a.m.
Panel Version: 0.28
57% of 23 cases from 17 French-Canadian spastic ataxia families had dystonia as a feature of the condition.
Sources: Expert listCreated: 6 Apr 2020, 1:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 3, autosomal recessive MIM#611390
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spastic ataxia 3, autosomal recessive MIM#611390
- Tags
- OMIM
- 609728
- Clinvar variants
- Variants in MARS2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mars2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mars2 has been classified as Green List (High Evidence).
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag SV/CNV tag was added to gene: MARS2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MARS2 was added gene: MARS2 was added to Dystonia - complex. Sources: Expert list 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