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Prepair 1000+

Gene: RARS

Green List (high evidence)
RARS (arginyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000113643
EnsemblGeneIds (GRCh37): ENSG00000113643
OMIM: 107820, Gene2Phenotype
RARS is in 6 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur.
Clinical presentation ranged from severe (onset in the first 3 months, usually with refractory epilepsy and early brain atrophy), to intermediate (onset in the first year with nystagmus and spasticity), and mild (onset around or after 12 months with minimal cognitive impairment and preserved independent walking). The most frequent RARS1 variant, c.5A>G, led to mild or intermediate phenotypes, whereas truncating variants and variants affecting amino acids close to the ArgRS active centre led to severe phenotypes (PMID: 31814314).
>15 unrelated families described.
Created: 31 Dec 2024, 3:34 a.m. | Last Modified: 31 Dec 2024, 3:34 a.m.
Panel Version: 1.978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 9, MIM #616140

Publications

Created: 31 Dec 2024, 3:34 a.m.
Last Modified: 31 Dec 2024, 3:34 a.m.
Panel version: 1.978

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 9, MIM#616140
OMIM
107820
Clinvar variants
Variants in RARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RARS were changed from Leukodystrophy, hypomyelinating, 9, 616140 (3) to Leukodystrophy, hypomyelinating, 9, MIM#616140

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RARS were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RARS was added gene: RARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9, 616140 (3)