Inherited white matter disorders
Gene: RARSAdded 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
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.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: RARS were set to 24777941; 27564080
Phenotypes for gene: RARS were changed from Leukodystrophy, hypomyelinating, 9 616140 to Leukodystrophy, hypomyelinating, 9, OMIM:616140
Tag new-gene-name tag was added to gene: RARS.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for RARS were set to 24777941;27564080
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for RARS were set to 24777941
Publications for RARS were set to
Phenotypes for RARS were set to Leukodystrophy, hypomyelinating, 9 616140
RARS was added to Inherited white matter disorderspanel. Sources: Expert list
RARS was created by [email protected]