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  3. RARS
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Leukodystrophy - paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

15 families reported.
Created: 10 Mar 2020, 10:40 p.m. | Last Modified: 10 Mar 2020, 10:40 p.m.
Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 9 MIM# 616140

Publications

Created: 10 Mar 2020, 10:40 p.m.
Last Modified: 10 Mar 2020, 10:40 p.m.
Panel version: Imported from Leukodystrophy panel version 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 9 616140
OMIM
107820
Clinvar variants
Variants in RARS
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RARS was added gene: RARS was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 616140