Inherited white matter disorders
Gene: RARSEnsemblGeneIds (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 RARS1Created: 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)
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, OMIM:616140
- Tags
- OMIM
- 107820
- Clinvar variants
- Variants in RARS
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: RARS were set to 24777941; 27564080
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RARS were changed from Leukodystrophy, hypomyelinating, 9 616140 to Leukodystrophy, hypomyelinating, 9, OMIM:616140
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: RARS.
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RARS were set to 24777941;27564080
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for RARS were set to 24777941
Set publications
Sarah Leigh (Genomics England Curator)Publications for RARS were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RARS were set to Leukodystrophy, hypomyelinating, 9 616140
Added New Source
Ian Berry (Leeds Genetics Laboratory)RARS was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)RARS was created by [email protected]