Paediatric motor neuronopathies
Gene: GARSEnsemblGeneIds (GRCh38): ENSG00000106105
EnsemblGeneIds (GRCh37): ENSG00000106105
OMIM: 600287, Gene2Phenotype
GARS is in 9 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1Created: 6 Sep 2019, 1:46 p.m. | Last Modified: 6 Sep 2019, 1:46 p.m.
Panel Version: 1.23
Alice Gardham (Genomics England)
Incorrect phenotype for panelCreated: 26 Jan 2017, 11:33 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Distal Spinal Muscular Atrophy
- Tags
- OMIM
- 600287
- Clinvar variants
- Variants in GARS
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary neuropathy
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
- Undiagnosed metabolic disorders
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: GARS.
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)GARS was added to Paediatric motor neuronopathiespanel. Sources: Expert
Added New Source
Antonio Rueda (GEL)GARS was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services