TEST Undiagnosed metabolic disorders
Gene: FARS2

FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000145982
EnsemblGeneIds (GRCh37): ENSG00000145982
OMIM: 611592, Gene2Phenotype
FARS2 is in 13 panels

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

OMIM

611592

Clinvar variants

Variants in FARS2

Penetrance

None

Publications

27604308

Panels with this gene

Likely inborn error of metabolism
Childhood onset dystonia, chorea or related movement disorder
Intellectual disability
Possible mitochondrial disorder - nuclear genes
Hereditary spastic paraplegia
Early onset or syndromic epilepsy
Undiagnosed metabolic disorders
Adult onset neurodegenerative disorder
Fetal anomalies
DDG2P
Adult onset hereditary spastic paraplegia
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: FARS2 was added gene: FARS2 was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARS2 were set to 27604308

TEST Undiagnosed metabolic disorders Gene: FARS2

0 reviews

Details

History Filter Activity

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

TEST Undiagnosed metabolic disorders
Gene: FARS2