Ataxia - paediatric
Gene: RARS2EnsemblGeneIds (GRCh38): ENSG00000146282
EnsemblGeneIds (GRCh37): ENSG00000146282
OMIM: 611524, Gene2Phenotype
RARS2 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Phenotypes
Pontocerebellar hypoplasia, type 6, MIM# 611523
Publications
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 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 Red
- Expert list
- Phenotypes
-
- Pontocerebellar hypoplasia, type 6, 611523
- early onset cerebellar ataxia
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rars2 has been classified as Red List (Low Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RARS2 were set to 31429931
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RARS2 was added gene: RARS2 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS2 were set to 31429931 Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; early onset cerebellar ataxia Review for gene: RARS2 was set to RED