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Mendeliome

Gene: FARS2

Green List (high evidence)

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

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

History Filter Activity

20 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fars2 has been classified as Green List (High Evidence).

20 Apr 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FARS2 were changed from to combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882

20 Apr 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FARS2 were set to

20 Apr 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FARS2 was added gene: FARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FARS2 was set to Unknown