Mitochondrial disease
Gene: FARS2

FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000145982
EnsemblGeneIds (GRCh37): ENSG00000145982
OMIM: 611592, Gene2Phenotype
FARS2 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

FARS2 deficiency comprises a spectrum of disease severity that ranges between two phenotypes: infantile-onset epileptic mitochondrial encephalopathy and less severe later-onset spastic paraplegia. At least 25 families reported with biallelic variants (mainly single nucleotide variants, but some copy number variants reported). Infantile-onset phenotype is the more prevalent phenotype.
Created: 24 Apr 2022, 2:09 a.m. | Last Modified: 24 Apr 2022, 2:09 a.m.

Panel Version: 0.789

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882

Publications

Created: 24 Apr 2022, 2:09 a.m.
Last Modified: 24 Apr 2022, 2:09 a.m.
Panel version: 0.789

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

FARS2 deficiency comprises a spectrum of disease severity that ranges between two phenotypes: infantile-onset epileptic mitochondrial encephalopathy and less severe later-onset spastic paraplegia. At least 25 families reported with biallelic variants (mainly single nucleotide variants, but some copy number variants reported). Infantile-onset phenotype is the more prevalent phenotype.
Created: 20 Apr 2022, 4:20 a.m. | Last Modified: 20 Apr 2022, 4:20 a.m.

Panel Version: 0.13103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Apr 2022, 4:20 a.m.
Last Modified: 20 Apr 2022, 4:20 a.m.
Panel version: Imported from Mendeliome panel version 0.13103

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

combined oxidative phosphorylation defect type 14 MONDO:0013986
hereditary spastic paraplegia 77 MONDO:0014882

OMIM

611592

Clinvar variants

Variants in FARS2

Penetrance

None

Publications

Panels with this gene