White matter disorders and cerebral calcification - narrow panel
Gene: RARSEnsemblGeneIds (GRCh38): ENSG00000113643
EnsemblGeneIds (GRCh37): ENSG00000113643
OMIM: 107820, Gene2Phenotype
RARS is in 5 panels
1 review
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: 1.9
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
- None
- 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 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RARS was added gene: RARS was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS were set to 24777941; 27564080 Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 616140