Ataxia and cerebellar anomalies - childhood onset
Gene: MARS2
MARS2 (methionyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000247626
EnsemblGeneIds (GRCh37): ENSG00000247626
OMIM: 609728, Gene2Phenotype
MARS2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000247626
EnsemblGeneIds (GRCh37): ENSG00000247626
OMIM: 609728, Gene2Phenotype
MARS2 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spastic ataxia 3, autosomal recessive
- OMIM
- 609728
- Clinvar variants
- Variants in MARS2
- Penetrance
- None
- Publications
-
- PubMed: 22448145
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary spastic paraplegia, childhood onset
- Intellectual disability
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary spastic paraplegia
- Hereditary ataxia, adult onset
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- Hereditary spastic paraplegia, adult onset
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 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 Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to PubMed: 22448145 Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive