Arthrogryposis
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, 1:47 p.m. | Last Modified: 6 Sep 2019, 1:47 p.m.
Panel Version: 2.43
Alice Gardham (Genomics England)
Comment when marking as ready: No known association with arthrogryposisCreated: 4 Jan 2017, 4:48 p.m.
Details
- Sources
-
- Expert Review Red
- Expert list
- 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 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)GARS was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)GARS was created by ellenmcdonagh