Hereditary Spastic Paraplegia - paediatric
Gene: FARS2

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)

At least 4 families with mitochondrial dysfunction and spastic paraplegia.
Created: 19 Apr 2020, 9:53 a.m. | Last Modified: 19 Apr 2020, 9:53 a.m.

Panel Version: 0.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 77, autosomal recessive MIM#617046

Publications

Created: 19 Apr 2020, 9:53 a.m.
Last Modified: 19 Apr 2020, 9:53 a.m.
Panel version: 0.67

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Spastic paraplegia 77, autosomal recessive, 617046

OMIM

611592

Clinvar variants

Variants in FARS2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

14 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FARS2 were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FARS2 was added gene: FARS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046

Hereditary Spastic Paraplegia - paediatric Gene: FARS2