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Genetic Epilepsy

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

3 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Seizures is a feature of the phenotypic spectrum (OMIM).
24/24 individuals with epileptic seizures in a 2020 review
Created: 11 Oct 2021, 5:01 a.m. | Last Modified: 11 Oct 2021, 5:01 a.m.
Panel Version: 0.1282

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 6 MIM#611523

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotype described in most individuals is of a severe neonatal encephalopathy, with no or minimal motor milestones attained. Features suggestive of a mitochondrial disorder.
Created: 17 Apr 2020, 2:43 a.m. | Last Modified: 17 Apr 2020, 2:43 a.m.
Panel Version: 0.168

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 6, MIM# 611523

Publications

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a prominent feature of PCH. A homozygous putative pathogenic variant has been identified in one family with early onset cerebellar ataxia.
Sources: Expert list
Created: 16 Jan 2020, 11:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 6, 611523; early onset cerebellar ataxia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 6 MIM#611523
OMIM
611524
Clinvar variants
Variants in RARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rars2 has been classified as Green List (High Evidence).

11 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6 MIM#611523

11 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RARS2 were set to

11 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RARS2 was added gene: RARS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RARS2 was set to Unknown