Cerebral Palsy
Gene: RARS2
RARS2 (arginyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000146282
EnsemblGeneIds (GRCh37): ENSG00000146282
OMIM: 611524, Gene2Phenotype
RARS2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000146282
EnsemblGeneIds (GRCh37): ENSG00000146282
OMIM: 611524, Gene2Phenotype
RARS2 is in 14 panels
1 review
Luisa Weiss (University of Adelaide)
Two male patients in a large CP cohort study with either spastic quadriplegic or dyskinetic CP. Both frameshift and missense mutations have been described.
PMID 34717047 presents a good overview of published cases with RARS2 mutations. Even though none of them were officially diagnosed with cerebral palsy, many showed progressive movement disorders like spastic quadriplegia, thus possibly presenting as CP.
Sources: LiteratureCreated: 31 Jul 2023, 2:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 6 MIM#611523
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pontocerebellar hypoplasia, type 6 MIM#611523
- OMIM
- 611524
- Clinvar variants
- Variants in RARS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Prepair 1000+
- Microcephaly
- Mendeliome
- Mitochondrial disease
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Ataxia - paediatric
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
1 Aug 2023, 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).
1 Aug 2023, 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).
31 Jul 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: RARS2 was added gene: RARS2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS2 were set to 34077496; 34717047 Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6 MIM#611523 Review for gene: RARS2 was set to GREEN