Hereditary ataxia with onset in adulthood
Gene: RARS2EnsemblGeneIds (GRCh38): ENSG00000146282
EnsemblGeneIds (GRCh37): ENSG00000146282
OMIM: 611524, Gene2Phenotype
RARS2 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple variants and families reported in the literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 6, 611523
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- epilepsy
- Pontocerebellar hypoplasia
- Pontocerebellar hypoplasia 6, 611523
- OMIM
- 611524
- Clinvar variants
- Variants in RARS2
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Cerebellar hypoplasia
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pontocerebellar hypoplasia 6, 611523 for gene: RARS2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RARS2.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to RARS2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: RARS2 was added gene: RARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to epilepsy; Pontocerebellar hypoplasia