TEST Undiagnosed metabolic disorders
Gene: MARS2

MARS2 (methionyl-tRNA synthetase 2, mitochondrial)
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
Literature

OMIM

609728

Clinvar variants

Variants in MARS2

Penetrance

None

Publications

27604308

Panels with this gene

Likely inborn error of metabolism
Hereditary ataxia with onset in adulthood
Childhood onset dystonia, chorea or related movement disorder
Intellectual disability
Possible mitochondrial disorder - nuclear genes
Hereditary spastic paraplegia
Undiagnosed metabolic disorders
Adult onset neurodegenerative disorder
Hereditary ataxia
Adult onset hereditary spastic paraplegia
Ataxia and cerebellar anomalies - narrow panel
Childhood onset hereditary spastic paraplegia
Mitochondrial disorders

History Filter Activity

20 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: MARS2 was added gene: MARS2 was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to 27604308

TEST Undiagnosed metabolic disorders Gene: MARS2

0 reviews

Details

History Filter Activity

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

TEST Undiagnosed metabolic disorders
Gene: MARS2