Hereditary spastic paraplegia - childhood onset

Gene: FARS2

Green List (high evidence)

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

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Childhood onset.
Created: 9 May 2019, 4:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

4 unrelated cases of FARS2 variants causing autosomal recessive HSP in the literature plus functional support. . In Sheffields HSP panel
Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 77, autosomal recessive, 617046

Arianna Tucci (Genomics England Curator)

Onset of SPG77 in infancy/childhood
Created: 14 Jan 2019, 4:52 p.m.

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to FARS2.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FARS2.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to FARS2.

3 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046 for gene: FARS2 Publications for gene FARS2 were changed from 29126765; 26553276; 25851414; 30250868 to 26553276; 30250868; 25851414; 29126765

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Onset of SPG77 in infancy/chil

19 Dec 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

gene: FARS2 was added gene: FARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARS2 were set to 29126765; 26553276; 25851414; 30250868 Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046