Paediatric motor neuronopathies
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
4 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1Created: 6 Sep 2019, 11:51 a.m. | Last Modified: 6 Sep 2019, 11:51 a.m.
Panel Version: 1.23
Pinki Munot (Consultant )
this gene has been associated with axonal CMT.
Might be good to have a rule to apply CMt panels to paediatric motor neuronopathies due to the clinical overlap with distal SMACreated: 2 Mar 2017, 7:27 p.m.
Arianna Tucci (Genomics England Curator)
mutation in this gene cause axonal cmtCreated: 31 Jan 2017, 3:45 p.m.
Alice Gardham (Genomics England)
Comment on list classification: CMT penotypeCreated: 26 Jan 2017, 11:12 a.m.
Details
- Sources
-
- Expert Review Red
- Expert
- Tags
- OMIM
- 601065
- Clinvar variants
- Variants in AARS
- Penetrance
- Complete
- 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
- Early onset or syndromic epilepsy
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary neuropathy or pain disorder
- 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: 1
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: AARS.
7 Mar 2017, Gel status: 1
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
7 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
2 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
2 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
8 May 2015, Gel status: 0
Added New Source
Eik Haraldsdottir (Genomics England)AARS was added to Paediatric motor neuronopathiespanel. Sources: Expert