Genes in panel

Hereditary ataxia - adult onset

Gene: RARS2

Green List (high evidence)

RARS2 (arginyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000146282
EnsemblGeneIds (GRCh37): ENSG00000146282
OMIM: 611524, Gene2Phenotype
RARS2 is in 15 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

Multiple variants and families reported in the literature
Created: 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

History Filter Activity

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pontocerebellar hypoplasia 6, 611523 for gene: RARS2

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RARS2.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to RARS2.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

15 Dec 2018, Gel status: 4

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