Inherited white matter disorders

Gene: RARS

Green List (high evidence)

RARS (arginyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000113643
EnsemblGeneIds (GRCh37): ENSG00000113643
OMIM: 107820, Gene2Phenotype
RARS is in 5 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for RARS is RARS1
Created: 6 Sep 2019, 2:17 p.m. | Last Modified: 6 Sep 2019, 2:17 p.m.
Panel Version: 1.71

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 3 unrelated cases reported in OMIM (all compound heterozygous) from one study (PMID: 24777941). Could not find further evidence in a second study.
Created: 26 Aug 2016, 9:53 a.m.

Sarah Leigh (Genomics England Curator)

Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM, but not on G2P. At least five variants reported. Not on the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.
Created: 24 Aug 2016, 12:50 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_598

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 9 616140
Tags
new-gene-name
OMIM
107820
Clinvar variants
Variants in RARS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: RARS.

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Sep 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for RARS were set to 24777941;27564080

26 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

24 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

24 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RARS were set to 24777941

24 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RARS were set to

24 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RARS were set to Leukodystrophy, hypomyelinating, 9 616140

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

RARS was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

RARS was created by [email protected]