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  2. Ataxia and cerebellar anomalies - narrow panel
  3. RARS2
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Ataxia and cerebellar anomalies - narrow panel

Gene: RARS2

Green List (high evidence)
RARS2 (arginyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000146282
EnsemblGeneIds (GRCh37): ENSG00000146282
OMIM: 611524, Gene2Phenotype
RARS2 is in 14 panels

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History Filter Activity

23 Sep 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RARS2 were changed from epilepsy; Pontocerebellar hypoplasia, type 6, 611523; Pontocerebellar Hypoplasia type 6; Pontocerebellar hypoplasia; Pontocerebellar Hypoplasia to Pontocerebellar hypoplasia, type 6, OMIM:611523

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes epilepsy; Pontocerebellar hypoplasia for gene: RARS2

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: RARS2 was added gene: RARS2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS2 were set to PMID: 25809939; PMID: 17847012; PMID: 20635367 Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 6