Childhood onset hereditary spastic paraplegia
Gene: FARS2EnsemblGeneIds (GRCh38): ENSG00000145982
EnsemblGeneIds (GRCh37): ENSG00000145982
OMIM: 611592, Gene2Phenotype
FARS2 is in 13 panels
4 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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)
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)
4 unrelated cases of FARS2 variants causing autosomal recessive HSP in the literature plus functional support. . In Sheffields HSP panelCreated: 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/childhoodCreated: 14 Jan 2019, 4:52 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Literature
- Expert Review Green
- Phenotypes
-
- Spastic paraplegia 77, autosomal recessive, 617046
- OMIM
- 611592
- Clinvar variants
- Variants in FARS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- DDG2P
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to FARS2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FARS2.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to FARS2.
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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: Onset of SPG77 in infancy/chil
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