This Panel is marked as Deleted
Epileptic encephalopathy Victorian Clinical Genetics Services
Gene: AARS
AARS (alanyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 15 panels
1 review
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1Created: 6 Sep 2019, 11:55 a.m. | Last Modified: 6 Sep 2019, 11:55 a.m.
Panel Version: 0.5
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Tags
- OMIM
- 601065
- Clinvar variants
- Variants in AARS
- Penetrance
- None
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Paediatric motor neuronopathies
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
History Filter Activity
6 Sep 2019, Gel status: 3
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: AARS.
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)AARS was added to Epileptic encephalopathy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)AARS was created by Sarah Leigh